Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
AXIN2 (axin 2)
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View all transcripts of gene AXIN2
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View all variants in gene AXIN2
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View all diseases associated with gene AXIN2
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Unique variants in the AXIN2 gene
The variants shown are described using the NM_004655.3 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
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
86 entries on 1 page. Showing entries 1 - 86.
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Legend
How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
08
c.2064G>?
-
p.Leu688Leu
cheek swabs, saliva, or whole blood
-
GenBank
AXIN2_00037
-
-
-
Qi Ming
./.
1
02
c.13A>G
-
p.Met5Val
unknown
-
GenBank
AXIN2_00097
NA
-
-
Qi Ming
./.
1
02
c.143C>T
-
p.Pro48Leu
peripheral columnar cells
-
GenBank
AXIN2_00045
-
1 more item
-
Qi Ming
./.
9
02
c.148C>T
-
p.Pro50Ser
unknown, peripheral blood, blood, cheek swabs, saliva, or whole blood
-
GenBank
AXIN2_00005, AXIN2_00017
A=0.324/407, 71/160
-, This is the first report to show an association between the AXIN2 SNP and lung cancer risk.
-
Qi Ming
./.
2
02
c.203G>A
-
p.Arg68Gln
unknown
-
GenBank
AXIN2_00096
NA
-
-
Qi Ming
./.
1
02
c.242C>T
-
p.Ser81Phe
unknown
-
GenBank
AXIN2_00095
NA
-
-
Qi Ming
./.
1
02
c.270C>T
-
p.Asp90Asp
blood
-
GenBank
AXIN2_00022
-
-
-
Qi Ming
./.
1
02
c.370G>A
-
p.Asp124Asn
unknown
-
GenBank
AXIN2_00094
NA
-
-
Qi Ming
./.
1
02
c.403T>A
-
p.Tyr135Asn
unknown
-
GenBank
AXIN2_00093
NA
-
-
Qi Ming
./.
3
02
c.432T>C
-
p.Ile144Ile
blood lymphocytes, blood
-
GenBank
AXIN2_00036
-
-
-
Qi Ming
./.
1
02
c.563A>G
-
p.Gln188Arg
unknown
-
GenBank
AXIN2_00099
NA
-
-
Qi Ming
./.
1
02
c.604A>C
-
p.Ser202Arg
unknown
-
GenBank
AXIN2_00092
NA
-
-
Qi Ming
./.
1
02
c.607G>A
-
p.Gly203Arg
unknown
-
GenBank
AXIN2_00098
NA
-
-
Qi Ming
./.
1
02
c.733C>T
-
p.Pro245Ser
unknown
-
GenBank
AXIN2_00091
NA
-
-
Qi Ming
./.
1
02
c.768G>T
-
p.Arg256Ser
unknown
-
GenBank
AXIN2_00088
NA
-
-
Qi Ming
./.
1
02
c.778dup
-
p.Ser260LysfsX9
unknown
-
GenBank
AXIN2_00101
NA
-
-
Qi Ming
./.
1
03
c.893A>G
-
p.Asn298Ser
unknown
-
GenBank
AXIN2_00087
NA
-
-
Qi Ming
./.
1
03
c.917C>T
-
p.Ala306Val
unknown
-
GenBank
AXIN2_00089
NA
-
-
Qi Ming
./.
6
03
c.956+16A>G
-
-
peripheral blood, blood, cheek swabs, saliva, or whole blood
-
GenBank
AXIN2_00003, AXIN2_00039
-
-
-
Qi Ming
./.
1
04
c.957-115A>G
-
-
blood
-
GenBank
AXIN2_00028
-
-
-
Qi Ming
./.
1
04
c.1042T>A
-
p.Ser348Thr
unknown
-
GenBank
AXIN2_00086
NA
-
-
Qi Ming
./.
4
3, 05
c.1060-17C>T
-
-
peripheral blood, blood
-
GenBank
AXIN2_00004
-
-
-
Qi Ming
./.
1
05
c.1070G>A
-
p.Arg357His
unknown
-
GenBank
AXIN2_00085
NA
-
-
Qi Ming
./.
1
05
c.1079A>G
-
p.Lys360Arg
unknown
-
GenBank
AXIN2_00084
NA
-
-
Qi Ming
./.
1
05
c.1154T>G
-
p.Leu385Trp
unknown
-
GenBank
AXIN2_00083
NA
-
-
Qi Ming
./.
1
05
c.1168A>G
-
p.Ser390Gly
unknown
-
GenBank
AXIN2_00090
NA
-
-
Qi Ming
./.
1
06
c.1201-84delG
-
-
unknown
-
GenBank
AXIN2_00048
-
-
-
Qi Ming
./.
2
06
c.1235A>G
-
p.Asn412Ser
unknown, blood
-
GenBank
AXIN2_00018
C=0.006/5
-
-
Qi Ming
./.
3
06
c.1365A>G
-
P.Pro455Pro
blood, blood lymphocytes
-
GenBank
AXIN2_00023
-
-, It is G>A in the document.
-
Qi Ming
./.
2
06
c.1386 C>T
-
p.Pro462Pro
blood
-
GenBank
AXIN2_00042
-
-
-
Qi Ming
./.
2
06
c.1386C>T
-
p.Pro462Pro
blood, blood lymphocytes
-
GenBank
AXIN2_00024
-
-
-
Qi Ming
./.
1
06
c.1436C>A
-
p.Ser479Tyr
unknown
-
GenBank
AXIN2_00100
NA
-
-
Qi Ming
./.
1
06
c.1530G>A
-
p.Thr510Thr
blood
-
GenBank
AXIN2_00025
-
-
-
Qi Ming
./.
1
06
c.1545C>T
-
p.His515His
blood
-
GenBank
AXIN2_00026
-
-
-
Qi Ming
./.
1
06
c.1555A>C
-
p.Ile519Leu
unknown
-
GenBank
AXIN2_00078
NA
-
-
Qi Ming
./.
1
06
c.1573C>G
-
p.Pro525Ala
unknown
-
GenBank
AXIN2_00077
C=0.046/16
-
-
Qi Ming
./.
1
06
c.1598C>T
-
p.Ala533Val
unknown
-
GenBank
AXIN2_00076
NA
-
-
Qi Ming
./.
1
06
c.1615G>A
-
p.Val539Met
unknown
-
GenBank
AXIN2_00041
T=0.017/21
-
-
Qi Ming
./.
1
06
c.1633G>T
-
p.Gly545Trp
unknown
-
GenBank
AXIN2_00081
NA
-
-
Qi Ming
./.
1
06
c.1637G>T
-
p.Gly546Val
unknown
-
GenBank
AXIN2_00080
NA
-
-
Qi Ming
./.
2
06
c.1685C>T
-
p.Pro562Leu
unknown
-
GenBank
AXIN2_00049
NA
-
-
Qi Ming
./.
1
06
c.1690A>G
-
p.Thr564Ala
unknown
-
GenBank
AXIN2_00079
NA
-
-
Qi Ming
./.
1
06
c.1712G>A
-
p.Gly571Asp
unknown
-
GenBank
AXIN2_00075
-
-
-
Qi Ming
./.
4
06
c.1712+19G>T
-
-
blood
-
GenBank
AXIN2_00029
-
-
-
Qi Ming
./.
1
07
c.1713-122G>A
-
-
blood
-
GenBank
AXIN2_00031
-
-
-
Qi Ming
./.
1
07
c.1738A>C
-
p.Lys580Gln
unknown
-
GenBank
AXIN2_00082
NA
-
-
Qi Ming
./.
2
07
c.1807G>C
-
p.Ala603Pro
unknown, blood
-
GenBank
AXIN2_00019
NA
-
-
Qi Ming
./.
1
07
c.1892A>C
-
p.Lys631Thr
unknown
-
GenBank
AXIN2_00074
NA
-
-
Qi Ming
./.
1
07
c.1893_1894insC
-
p.633GlnfsX4
unknown
-
GenBank
AXIN2_00071
NA
-
-
Qi Ming
./.
1
07
c.1899G>T
-
p.Lys633Asn
unknown
-
GenBank
AXIN2_00069
NA
-
-
Qi Ming
./.
1
07
c.1900C>T
-
p.Pro634Ser
unknown
-
GenBank
AXIN2_00068
NA
-
-
Qi Ming
./.
1
07
c.1907+18C>T
-
-
blood
-
GenBank
AXIN2_00030
-
-
-
Qi Ming
./.
1
07
c.1907+39T>A
-
-
blood
-
GenBank
AXIN2_00032
-
-
-
Qi Ming
./.
1
07
c.1907+73T>C
-
-
blood
-
GenBank
AXIN2_00102
-
-
-
Qi Ming
./.
1
08
c.1948C>T
-
p.Arg650Cys
unknown
-
GenBank
AXIN2_00067
NA
-
-
Qi Ming
./.
1
08
c.1952C>T
-
p.Ser651Leu
unknown
-
GenBank
AXIN2_00072
NA
-
-
Qi Ming
./.
2
7, 08
c.1966C>T
-
p.R656X, p.Arg656X
venous blood, blood
-
GenBank
AXIN2_00006, AXIN2_00016
11/11
-,
1 more item
-
Qi Ming
./.
3
08
c.1975C>T
-
p.Arg659Trp
unknown, tumor samples
-
GenBank
AXIN2_00014
NA
-
-
Qi Ming
./.
1
08
c.1985T>C
-
p.Leu662Pro
unknown
-
GenBank
AXIN2_00066
NA
-
-
Qi Ming
./.
1
08
c.1989G>A
-
p.Trp663X
peripheral blood
-
GenBank
AXIN2_00001
-
1 more item
-
Qi Ming
./.
1
08
c.1994delG
-
p.Gly665AlafsX24
cancer cells
-
GenBank
AXIN2_00035
-
-
-
Qi Ming
./.
2
08
c.1994_1995insG
-
p.Asn666GlnfsX41
venous blood, blood
-
GenBank
AXIN2_00007, AXIN2_00051
1/11
-
-
Qi Ming
./.
1
08
c.1998C>A
-
p.Asn666Lys
unknown
-
GenBank
AXIN2_00065
NA
-
-
Qi Ming
./.
1
08
c.2013_2014del
-
p.Thr672HisfsX34
unknown
-
GenBank
AXIN2_00050
-
-
-
Qi Ming
./.
1
08
c.2025delT
-
p.Ala676ProfsX13
unknown
-
GenBank
AXIN2_00073
NA
-
-
Qi Ming
./.
1
08
c.2051C>T
-
p.Ala684Val
unknown
-
GenBank
AXIN2_00064
NA
-
-
Qi Ming
./.
1
08
c.2053A>G
-
p.Met685Val
unknown
-
GenBank
AXIN2_00063
NA
-
-
Qi Ming
./.
6
08, 07
c.2062C>T
-
p.Leu688Leu
peripheral blood, blood , blood lymphocytes
-
GenBank
AXIN2_00002, AXIN2_00027
-
-
-
Qi Ming
./.
1
08
c.2083delG
-
p.Ala695LeufsX10
normal gastric tissues
-
GenBank
AXIN2_00008
-
1 more item
-
Qi Ming
./.
1
08
c.2083G>T
-
p.Ala695Ser
unknown
-
GenBank
AXIN2_00062
NA
-
-
Qi Ming
./.
1
08
c.2102_2113del12
-
p.Cys701_Ala705delinsSer
tumor samples
-
GenBank
AXIN2_00015
-
-
-
Qi Ming
./.
1
08
c.2140C>T
-
p.Arg714Trp
unknown
-
GenBank
AXIN2_00058
NA
-
-
Qi Ming
./.
1
08
c.2141+15A>C
-
-
unknown
-
GenBank
AXIN2_00046
-
-
-
Qi Ming
./.
2
08
c.2141+73 G>A
-
-
blood
-
GenBank
AXIN2_00044
18/100
-
-
Qi Ming
./.
2
08
c.2141+73G>A
-
-
blood
-
GenBank
AXIN2_00034
-
-
-
Qi Ming
./.
1
09
c.2182G>A
-
p.Ala728Thr
unknown
-
GenBank
AXIN2_00057
NA
-
-
Qi Ming
./.
2
09
c.2213C>T
-
p.Ser738Phe
unknown, blood
-
GenBank
AXIN2_00020
NA
-
-
Qi Ming
./.
1
09
c.2237+3G>A
-
-
unknown
-
GenBank
AXIN2_00047
-
-
-
Qi Ming
./.
1
10
c.2239C>T
-
p.His747Tyr
unknown
-
GenBank
AXIN2_00056
NA
-
-
Qi Ming
./.
1
10
c.2240A>G
-
p.His747Arg
unknown
-
GenBank
AXIN2_00055
NA
-
-
Qi Ming
./.
1
10
c.2272G>A
-
p.Ala758Thr
unknown
-
GenBank
AXIN2_00054
NA
-
-
Qi Ming
./.
1
10
c.2282C>A
-
p.Ala761Asp
unknown
-
GenBank
AXIN2_00061
T=0.010/12
-
-
Qi Ming
./.
2
10
c.2285G>A
-
p.Ser762Asn
blood, unknown
-
GenBank
AXIN2_00021
NA
-
-
Qi Ming
./.
1
10
c.2323A>T
-
p.Ile775Phe
unknown
-
GenBank
AXIN2_00053
NA
-
-
Qi Ming
./.
1
11
c.2428G>A
-
p.Asp810Asn
unknown
-
GenBank
AXIN2_00060
NA
-
-
Qi Ming
./.
1
11
c.2479G>A
-
p.Val827Met
unknown
-
GenBank
AXIN2_00052
NA
-
-
Qi Ming
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