Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
PKP2 (plakophilin 2)
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Unique variants in the PKP2 gene
The variants shown are described using the NM_004572.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Type
: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
ClassClinical
: ClassClinical
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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134 entries on 2 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
11
c.2146
-
p.=
blood
-
GenBank
PKP2_00119
-
-
-
Qi Ming
./.
3
01
c.76G>A
-
p.Asp26Asn
blood, unknown
-
GenBank
PKP2_00040
NA
76G>A
-
Qi Ming
./.
3
01
c.148_151del
-
p.Thr50SerfsX61
blood
-
GenBank
PKP2_00075
-
c.145_148delCAGA , 145_148delCAGA
-
Qi Ming
./.
1
01
c.148_151delACAG
-
p.Thr50SerfsX61
blood
-
GenBank
PKP2_00001
-
148_151delACAG
-
Qi Ming
./.
2
01
c.148_151delCAGA
-
p.Thr50SerfsX61
Tissue, blood
-
GenBank
PKP2_00022, PKP2_00037
-
144_148delCAGA, 145_148delCAGA
-
Qi Ming
./.
2
01
c.174G>T
-
p.Glu58Asp
blood, unknown
-
GenBank
PKP2_00133
NA
-
-
Qi Ming
./.
1
01
c.176A>T
-
p.Gln59Leu
blood
-
GenBank
PKP2_00134
-
-
-
Qi Ming
./.
3
01
c.184C>A
-
p.Gln62Lys
blood
-
GenBank
PKP2_00048
-
-
-
Qi Ming
./.
2
01
c.193G>T
-
p.Ala65Ser
blood, unknown
-
GenBank
PKP2_00093
NA
-
-
Qi Ming
./.
1
01
c.194C>T
-
p.Ala65Val
unknown
-
GenBank
PKP2_00164
NA
-
-
Qi Ming
./.
1
01
c.209G>T
-
p.Ser70Ile
unknown
-
GenBank
PKP2_00165
A=0.011/24
-
-
Qi Ming
./.
1
01
c.217_218dup
-
p.Asn74AlafsX39
blood
-
GenBank
PKP2_00063
-
-
-
Qi Ming
./.
1
01
c.223+1G>A
-
p.=
blood
-
GenBank
PKP2_00077
-
-
-
Qi Ming
./.
1
02
c.235C>T
-
p.Arg79X
blood
-
GenBank
PKP2_00127
-
-
-
Qi Ming
./.
6
02
c.235C>T
-
p.Arg79X
blood, tissue
-
GenBank
PKP2_00003
-
235C T, 235C>T
-
Qi Ming
./.
1
02
c.253_256del
-
p.Glu85MetfsX26
blood
-
GenBank
PKP2_00078
-
-
-
Qi Ming
./.
1
02
c.258T>G
-
p.Tyr86X
blood
-
GenBank
PKP2_00041
-
258T>G
-
Qi Ming
./.
1
02
c.259G>C
-
p.Val87Leu
blood
-
GenBank
PKP2_00094
-
-
-
Qi Ming
./.
1
02
c.275T>A
-
p.Leu92X
blood
-
GenBank
PKP2_00079
-
-
-
Qi Ming
./.
1
02
c.298G>C
-
p.Gly100Arg
blood
-
GenBank
PKP2_00131
-
-
-
Qi Ming
./.
2
02
c.302G>A
-
p.Arg101His
blood, unknown
-
GenBank
PKP2_00095
NA
-
-
Qi Ming
./.
1
02
c.307C>A
-
p.Pro103Thr
unknown
-
GenBank
PKP2_00166
NA
-
-
Qi Ming
./.
2
03
c.397C>T
-
p.Gln133X
blood
-
GenBank
PKP2_00042
-
397C>T
-
Qi Ming
./.
1
03
c.419C>T
-
p.Ser140Phe
blood
-
GenBank
PKP2_00111
-
-
-
Qi Ming
./.
9
03
c.419C>T
-
p.Ser140Phe
Tissue, blood, unknown
-
GenBank
PKP2_00004
NA
C419T, 419C T
-
Qi Ming
./.
1
03
c.464G>C
-
p.Ser155Thr
unknown
-
GenBank
PKP2_00167
NA
-
-
Qi Ming
./.
1
03
c.473G>A
-
p.Arg158Lys
blood
-
GenBank
PKP2_00123
-
G473A
-
Qi Ming
./.
1
03
c.505A>G
-
p.Ser169Gly
unknown
-
GenBank
PKP2_00072
NA
-
-
Qi Ming
./.
1
03
c.587dup
-
p.Ser197PhefsX19
blood
-
GenBank
PKP2_00080
-
-
-
Qi Ming
./.
1
03
c.587G>A
-
p.Arg196His
unknown
-
GenBank
PKP2_00168
NA
-
-
Qi Ming
./.
1
03
c.627C>G
-
p.Ser209Arg
blood
-
GenBank
PKP2_00099
-
-
-
Qi Ming
./.
2
03
c.631C>T
-
p.Gln211X
blood
-
GenBank
PKP2_00100
-
630C>T, C631T
-
Qi Ming
./.
1
03
c.682G>A
-
p.Asp228Asn
unknown
-
GenBank
PKP2_00169
NA
-
-
Qi Ming
./.
1
03
c.706G>T
-
p.Ala236Ser
unknown
-
GenBank
PKP2_00170
NA
-
-
Qi Ming
./.
1
03
c.713C>T
-
p.Pro238Leu
blood
-
GenBank
PKP2_00081
-
-
-
Qi Ming
./.
2
03
c.791C>T
-
p.Ala264Val
blood, unknown
-
GenBank
PKP2_00096
A=0.012/27
-
-
Qi Ming
./.
1
03
c.819G>A
-
p.Pro273Pro
blood
-
GenBank
PKP2_00109
-
-
-
Qi Ming
./.
1
03
c.914G>A
-
p.Gly305Glu
unknown
-
GenBank
PKP2_00163
NA
-
-
Qi Ming
./.
1
03
c.941G>A
-
p.Gly314Glu
unknown
-
GenBank
PKP2_00162
NA
-
-
Qi Ming
./.
1
03
c.976G>A
-
p.Ala326Thr
unknown
-
GenBank
PKP2_00161
NA
-
-
Qi Ming
./.
2
03
c.982_983dup
-
p.Ser329Glufsx24
blood
-
GenBank
PKP2_00076
-
c.983_984insGG
-
Qi Ming
./.
1
03
c.983G>C
-
p.Gly328Ala
unknown
-
GenBank
PKP2_00160
NA
-
-
Qi Ming
./.
1
03
c.987del
-
p.Ser329ArgfsX23
blood
-
GenBank
PKP2_00082
-
-
-
Qi Ming
./.
1
03
c.1010G>A
-
p.Ser337Asn
unknown
-
GenBank
PKP2_00159
NA
-
-
Qi Ming
./.
2
03
c.1012A>G
-
p.Thr338Ala
blood, unknown
-
GenBank
PKP2_00056
NA
-
-
Qi Ming
./.
1
04
c.1048G>A
-
p.Glu350Lys
unknown
-
GenBank
PKP2_00158
NA
-
-
Qi Ming
./.
1
04
c.1093A>G
-
p.Met365Val
unknown
-
GenBank
PKP2_00157
NA
-
-
Qi Ming
./.
1
04
c.1097T>C
-
p.Leu366Pro
blood
-
GenBank
PKP2_00136
-
-
-
Qi Ming
./.
1
04
c.1114G>C
-
p.Ala372Pro
blood
-
GenBank
PKP2_00101
-
-
-
Qi Ming
./.
1
04
c.1127T>C
-
p.Phe376Ser
unknown
-
GenBank
PKP2_00156
G=0.000/1
-
-
Qi Ming
./.
1
04
c.1132C>T
-
p.Gln378X
blood
-
GenBank
PKP2_00083
-
-
-
Qi Ming
./.
1
04
c.1162C>T
-
p.Arg388Trp
blood
-
GenBank
PKP2_00102
-
-
-
Qi Ming
./.
1
04
c.1170+1G>A
-
-
blood
-
GenBank
PKP2_00084
-
-
-
Qi Ming
./.
3
05
c.1171-2A>G
-
-
blood
-
GenBank
PKP2_00038
-
1171, 1170-2A>G
-
Qi Ming
./.
1
05
c.1202_1209delTGCAGCTC
-
p.Leu401ProfsX6
blood
-
GenBank
PKP2_00116
-
-
-
Qi Ming
./.
1
05
c.1205del
-
p.Gln402ArgfsX3
blood
-
GenBank
PKP2_00085
-
-
-
Qi Ming
./.
2
05
c.1211dup
-
p.Val406SerfsX4
blood
-
GenBank
PKP2_00043, PKP2_00112
-
1211, c.1212insT
-
Qi Ming
./.
1
05
c.1231dup
-
p.Val411GlyfsX15
blood
-
GenBank
PKP2_00086
-
-
-
Qi Ming
./.
3
05
c.1237C>T
-
p.Arg413X
Tissue, blood
-
GenBank
PKP2_00023
-
C1237T
-
Qi Ming
./.
1
05
c.1256T>C
-
p.Leu419Ser
blood
-
GenBank
PKP2_00124
-
T1256C
-
Qi Ming
./.
3
05
c.1271T>C
-
p.Phe424Ser
blood, tissue
-
GenBank
PKP2_00029
-
1271T C
-
Qi Ming
./.
1
05
c.1292T>C
-
p.Leu431Ser
unknown
-
GenBank
PKP2_00155
NA
-
-
Qi Ming
./.
1
05
c.1307_1315delins8
-
p.Leu436HisfsX11
blood
-
GenBank
PKP2_00074
-
-
-
Qi Ming
./.
3
05
c.1368delA
-
p.Lys456AsnfsX3
blood
-
GenBank
PKP2_00028
-
1368delA
-
Qi Ming
./.
1
05
c.1378+1G>C
-
p.=
blood
-
GenBank
PKP2_00087
-
-
-
Qi Ming
./.
1
06
c.1420G>A
-
p.Ala474Thr
unknown
-
GenBank
PKP2_00154
NA
-
-
Qi Ming
./.
1
06
c.1433C>T
-
p.Ala478Val
unknown
-
GenBank
PKP2_00153
NA
-
-
Qi Ming
./.
2
06
c.1465G>A
-
p.Gly489Arg
blood, unknown
-
GenBank
PKP2_00117
NA
-
-
Qi Ming
./.
2
06
c.1468C>T
-
p.Arg490Trp
blood, unknown
-
GenBank
PKP2_00097
NA
-
-
Qi Ming
./.
1
06
c.1489C>T
-
p.Arg497Ter
unknown
-
GenBank
PKP2_00152
NA
-
-
Qi Ming
./.
1
07
c.1550A>G
-
p.Asn517Ser
unknown
-
GenBank
PKP2_00151
NA
-
-
Qi Ming
./.
1
07
c.1577C>T
-
p.Thr526Met
unknown
-
GenBank
PKP2_00150
NA
-
-
Qi Ming
./.
1
07
c.1592T>C
-
p.Ile531Thr
blood
-
GenBank
PKP2_00055
-
-
-
Qi Ming
./.
3
07
c.1592T>G
-
p.Ile531Ser
blood, unknown
-
GenBank
PKP2_00104
NA
-
-
Qi Ming
./.
1
07
c.1597_1600delATCC
-
p.Ile533ProfsX29
Tissue
-
GenBank
PKP2_00024
-
1597_1600delATCC
-
Qi Ming
./.
3
07
c.1613G>A
-
p.Trp538X
blood
-
GenBank
PKP2_00030
-
1613G A
-
Qi Ming
./.
1
07
c.1627T>C
-
p.Tyr543His
blood
-
GenBank
PKP2_00132
-
-
-
Qi Ming
./.
1
07
c.1630_1631insTT
-
p.Pro544LeufsX20
blood
-
GenBank
PKP2_00088
-
-
-
Qi Ming
./.
1
07
c.1643del
-
p.Gly548ValfsX15
blood
-
GenBank
PKP2_00089
-
-
-
Qi Ming
./.
4
07
c.1643delG
-
p.Gly548ValfsX15
blood, tissue
-
GenBank
PKP2_00007
-
1642delG
-
Qi Ming
./.
1
07
c.1688+1G>A
-
p.=
blood
-
GenBank
PKP2_00090
-
-
-
Qi Ming
./.
1
08
c.1689-1G>C
-
p.=
blood
-
GenBank
PKP2_00073
-
-
-
Qi Ming
./.
1
08
c.1709C>T
-
p.Ala570Val
unknown
-
GenBank
PKP2_00149
NA
-
-
Qi Ming
./.
1
08
c.1709delC
-
p.Ala570ValfsX7
Tissue
-
GenBank
PKP2_00026
-
1709delC
-
Qi Ming
./.
1
08
c.1725_1728dupGATG
-
p.Arg577AspfsX5
blood
-
GenBank
PKP2_00051
-
1728_1729insGATG
-
Qi Ming
./.
1
08
c.1748_1755dupTTGACTCA
-
p.Val587ThrfsX72
Tissue
-
GenBank
PKP2_00039
-
1755_1756insTTGACTCA
-
Qi Ming
./.
4
08
c.1759G>A
-
p.Val587Ile
blood, unknown
-
GenBank
PKP2_00065
NA
c.1760G>A
-
Qi Ming
./.
1
08
c.1769T>C
-
p.Val590Ala
unknown
-
GenBank
PKP2_00148
NA
-
-
Qi Ming
./.
1
09
c.1839C>G
-
p.Asn613Lys
blood
-
GenBank
PKP2_00135
-
-
-
Qi Ming
./.
1
09
c.1844C>T
-
p.Ser615Phe
Tissue
-
GenBank
PKP2_00008
-
C1844T
-
Qi Ming
./.
1
09
c.1848C>A
-
p.Tyr616X
blood
-
GenBank
PKP2_00044
-
1848C>A
-
Qi Ming
./.
1
09
c.1941T>G
-
p.Cys647Trp
unknown
-
GenBank
PKP2_00147
NA
-
-
Qi Ming
./.
1
09
c.1951C>T
-
p.Arg651X
blood
-
GenBank
PKP2_00011
-
-
-
Qi Ming
./.
1
10
c.1978C>T
-
p.Gln660X
blood
-
GenBank
PKP2_00105
-
-
-
Qi Ming
./.
1
10
c.2009del
-
p.Asn670ThrfsX14
blood
-
GenBank
PKP2_00171
-
c.2009delC
-
Qi Ming
./.
1
10
c.2013del
-
p.Lys672ArgfsX12
tissue
-
GenBank
PKP2_00114
-
c.2011delC
-
Qi Ming
./.
2
10
c.2013delC
-
p.Lys672ArgfsX12
blood
-
GenBank
PKP2_00032
-
2011delC
-
Qi Ming
./.
1
10
c.2018G>T
-
p.Gly673Val
blood
-
GenBank
PKP2_00118
-
-
-
Qi Ming
./.
1
10
c.2020G>A
-
p.Val674Met
unknown
-
GenBank
PKP2_00146
NA
-
-
Qi Ming
./.
1
10
c.2028G>A
-
p.Trp676X
blood
-
GenBank
PKP2_00045
-
2028G>A
-
Qi Ming
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