All variants in the KIT gene

Information The variants shown are described using the NM_000222.2 transcript reference sequence.

152 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. 01 c.2T>C - p.Met1Thr Substitution - GenBank KIT_00028 - The second mutation was a novel change, 2T>C, which affects the T of the ATG initiation codon M1T and is likely to result in absence of translation initiation - Qi Ming
./. 01 c.67+4G>A - - Substitution - GenBank KIT_00069 - - - Qi Ming
./. 02 c.101C>T - p.Pro34Leu Substitution - GenBank KIT_00085 NA - - Qi Ming
./. 02 c.142delG - p.Val48SerfsX56 Deletion - GenBank KIT_00015 - - - Qi Ming
./. 02 c.199A>T - p.Thr67Ser Substitution - GenBank KIT_00086 NA - - Qi Ming
./. 02 c.200C>G - p.Thr67Ser Substitution - GenBank KIT_00087 NA - - Qi Ming
./. 02 c.221C>T - p.Thr74Met Substitution - GenBank KIT_00088 NA - - Qi Ming
./. 02 c.253delG - p.Glu85LysfsX16 Deletion - GenBank KIT_00001 - The codon 85 frameshift constitutes a pure loss of function mutation, demonstrating that human piebaldism can result from simple haplo-insufficiency for KIT-dependent signal transduction. - Qi Ming
./. 02 c.253G>C - p.Glu85Gln Substitution - GenBank KIT_00075 - - - Qi Ming
./. 02 c.280A>G - p.Lys94Glu Substitution - GenBank KIT_00089 NA - - Qi Ming
./. 03 c.358delG - p.Val120LeufsX24 Deletion - GenBank KIT_00022 - - - Qi Ming
./. 03 c.369dup - p.Tyr125ValfsX41 Duplication - GenBank KIT_00136 NA - - Qi Ming
./. 03 c.406T>C - p.Cys136Arg Substitution - GenBank KIT_00024 - - - Qi Ming
./. 03 c.406T>C - p.Cys136Arg Substitution - GenBank KIT_00024 - - - Qi Ming
./. 03 c.454C>G - p.Gln152Glu Substitution - GenBank KIT_00091 NA - - Qi Ming
./. 03 c.503C>T - p.Ala168Val Substitution - GenBank KIT_00092 NA - - Qi Ming
./. 03 c.532G>A - p.Ala178Thr Substitution - GenBank KIT_00035 - - - Qi Ming
./. 04 c.655G>C - p.Ala219Pro Substitution - GenBank KIT_00093 NA - - Qi Ming
./. 05 c.821C>T - p.Thr274Met Substitution - GenBank KIT_00094 NA - - Qi Ming
./. 05 c.836_837insT - p.Ala280SerfsX4 Insertion - GenBank KIT_00095 NA - - Qi Ming
./. 05 c.842G>A - p.Arg281Lys Substitution - GenBank KIT_00096 NA - - Qi Ming
./. 05 c.878A>G - p.Asn293Ser Substitution - GenBank KIT_00097 NA - - Qi Ming
./. 06 c.952A>G - p.Met318Val Substitution - GenBank KIT_00040 - - - Qi Ming
./. 06 c.952A>G - p.Met318Val Substitution - GenBank KIT_00040 NA - - Qi Ming
./. 06 c.964A>G - p.Thr322Ala Substitution - GenBank KIT_00098 NA - - Qi Ming
./. 06 c.972del - p.Phe324LeufsX2 Deletion - GenBank KIT_00135 NA - - Qi Ming
./. 06 c.1036C>T - p.Gln346X Substitution - GenBank KIT_00029 - - - Qi Ming
./. 06 c.1039C>T - p.Gln347X Substitution - GenBank KIT_00046 - - - Qi Ming
./. 07 c.1120G>A - p.Val374Ile Substitution - GenBank KIT_00100 NA - - Qi Ming
./. 07 c.1195G>A - p.Val399Ile Substitution - GenBank KIT_00101 NA - - Qi Ming
./. 07 c.1199A>G - p.Asn400Ser Substitution - GenBank KIT_00102 G=0.004/4 - - Qi Ming
./. 07 c.1228A>C - p.Asn410His Substitution - GenBank KIT_00103 NA - - Qi Ming
./. 08 c.1255_1257delGAC - p.Asp419del Deletion - GenBank KIT_00027 - extracellular juxtamembrane domain encoded by exon 8 is a functional area capable of regulating KIT activity and establishes this deletion as a regulatory-type mutation.imatinib was able to inhibit KIT activation caused by this mutation, - Qi Ming
./. 09 c.1351T>C - p.Ser451Pro Substitution - GenBank KIT_00104 NA - - Qi Ming
./. 09 c.1413_1414insA - p.Leu472ThrfsX10 Insertion - GenBank KIT_00105 NA - - Qi Ming
./. 09 c.1463C>T - p.Thr488Met Substitution - GenBank KIT_00106 NA - - Qi Ming
./. 09 c.1486G>A - p.Asp496Asn Substitution - GenBank KIT_00107 NA - - Qi Ming
./. 09 c.1493dup - p.Lys499GlnfsX7 Duplication - GenBank KIT_00131 NA - - Qi Ming
./. 09 c.1526A>T - p.Lys509Ile Substitution - GenBank KIT_00056 - the K509I change is indeed novel. - Qi Ming
./. 09 c.1530_1531insGCCTAT - p.Gly510_Asn511insAlaTyr Insertion - GenBank KIT_00006 - - - Qi Ming
./. 10 c.1564T>G - p.Phe522Val Substitution - GenBank KIT_00109 NA - - Qi Ming
./. 10 c.1588G>A - p.Val530Ile Substitution - GenBank KIT_00110 A=0.003/3 - - Qi Ming
./. 10 c.1594G>A - p.Val532Ile Substitution - GenBank KIT_00111 NA - - Qi Ming
./. 10 c.1598C>A - p.Ala533Asp Substitution - GenBank KIT_00013 - - - Qi Ming
./. 10 c.1621A>C - p.Met541Leu Substitution - GenBank KIT_00018 - This substitution may impair insertion of the KIT recepter into the cell membrane or may affect dimerization of the recepter polypeptide. - Qi Ming
./. 10 c.1621A>C - p.Met541Leu Substitution - GenBank KIT_00018 - The C-KIT 1642A>C polymorphism is not associated with myelodysplastic syndrome or systemic mastocytosis. - Qi Ming
./. 10 c.1621A>C - p.Met541Leu Substitution - GenBank KIT_00018 C=0.060/76 - - Qi Ming
./. 11 c.1649A>T - p.Lys550Ile Substitution - GenBank KIT_00080 - - - Qi Ming
./. 11 c.1653_1670del - p.Met552_Trp557del Deletion - GenBank KIT_00052 - - - Qi Ming
./. 11 c.1654_1668del - p.Met552_Gln556del Deletion - GenBank KIT_00031 - - - Qi Ming
./. 11 c.1655T>A - p.Met552Lys Substitution - GenBank KIT_00053 - - - Qi Ming
./. 11 c.1655_1672del - p.Met552_Trp557del Deletion - GenBank KIT_00047 - - - Qi Ming
./. 11 c.1657_1658delinsGT - p.Tyr553Val Insertion/Deletion - GenBank KIT_00054 - - - Qi Ming
./. 11 c.1661_1675del - p.Glu554_Lys558del Deletion - GenBank KIT_00055 - - - Qi Ming
./. 11 c.1669T>C - p.Trp557Arg Substitution - GenBank KIT_00007 - The mutation induces not only development of multiple GANTs, but also ICC hyperplasia. - Qi Ming
./. 11 c.1669T>C - p.Trp557Arg Substitution - GenBank KIT_00007 - - - Qi Ming
./. 11 c.1669_1674del - p.Trp557_Lys558del Deletion - GenBank KIT_00050 - - - Qi Ming
./. 11 c.1669_1674del - p.Trp557_Lys558del Deletion - GenBank KIT_00050 - - - Qi Ming
./. 11 c.1669_1683del - p.Trp557_Glu561del Deletion - GenBank KIT_00026 - - - Qi Ming
./. 11 c.1669_1683del - p.Trp557_Glu561del Deletion - GenBank KIT_00026 - - - Qi Ming
./. 11 c.1669_1683del - p.Trp557_Glu561del Deletion - GenBank KIT_00026 - - - Qi Ming
./. 11 c.1670G>A - p.Trp557X Substitution - GenBank KIT_00039 - - - Qi Ming
./. 11 c.1670G>C - p.Trp557Ser Substitution - GenBank KIT_00032 - - - Qi Ming
./. 11 c.1674_1680del - p.Val559ArgfsX3 Deletion - GenBank KIT_00021 - - - Qi Ming
./. 11 c.1675_1680del - p.Val559_Val560del Deletion - GenBank KIT_00036 - - - Qi Ming
./. 11 c.1675_1680delGTTGTT - p.Val559_Val560del Deletion - GenBank KIT_00016 - - - Qi Ming
./. 11 c.1676T>A - p.Val559Asp Substitution - GenBank KIT_00081 - - - Qi Ming
./. 11 c.1676T>C - p.Val559Ala Substitution - GenBank KIT_00006 2/a family The point mutation (VaP59~Ala) iden- tified in our study is possibly a novel type of gain-of- function mutation of c-kit, one that causes multiple GISTs as well as cutaneous hyperpigmentation. - Qi Ming
./. 11 c.1679delT - Glu561ArgfsX3 Deletion - GenBank KIT_00112 NA - - Qi Ming
./. 11 c.1679T>A - p.Val560Asp Substitution - GenBank KIT_00024 - - - Qi Ming
./. 11 c.1679T>G - p.Val560Gly Substitution - GenBank KIT_00006 - - - Qi Ming
./. 11 c.1679T>G - p.Val560Gly Substitution - GenBank KIT_00006 - - - Qi Ming
./. 11 c.1679T>G - p.Val560Gly Substitution - GenBank KIT_00006 - - - Qi Ming
./. 11 c.1679T>G - p.Val560Gly Substitution - GenBank KIT_00006 - - - Qi Ming
./. 11 c.1679_1680delinsAG - p.Val560Glu Insertion/Deletion - GenBank KIT_00025 - - - Qi Ming
./. 11 c.1679_1681del - p.Val560del Deletion - GenBank KIT_00033 - - - Qi Ming
./. 11 c.1681dupG - p.Glu561GlyfsX19 Duplication - GenBank KIT_00051 - The mutation is associated with variable but generally milder phenotype. - Qi Ming
./. 11 c.1702_1722del - p.Tyr568_Thr574del Deletion - GenBank KIT_00034 - - - Qi Ming
./. 11 c.1726_1731dupCAACTT - p.Leu576_Pro577dup Duplication - GenBank KIT_00059 - - - Qi Ming
./. 11 c.1727T>C - p.Leu576Pro Substitution - GenBank KIT_00049 - - - Qi Ming
./. 11 c.1747G>A - p.Glu583Lys Substitution - GenBank KIT_00010 - The data in this article strongly suggest that this mutation is the cause of piebaldism. - Qi Ming
./. 11 c.1751T>G - p.Phe584Cys Substitution - GenBank KIT_00030 - - - Qi Ming
./. 10 c.1752delT - p.Arg586GlufsX4 Deletion - GenBank KIT_00134 NA - - Qi Ming
./. 11 c.1752T>A - p.Phe584Leu Substitution - GenBank KIT_00048 - The mutation is associated with the typical severe piebald phenotype. - Qi Ming
./. 11 c.1768_1769delAG - p.Ser590PhefsX15 Deletion - GenBank KIT_00016 - This is consistent with the fact that frameshift mutations in the intracellular domain cause moderate to severe phenotype. - Qi Ming
./. 12 c.1784T>C - p.Leu595Pro Substitution - GenBank KIT_00065 - a transition mutation of T1784C whichleads to Leu595Pro substitution in patient 2 - Qi Ming
./. 12 c.1801G>A - p.Gly601Arg Substitution - GenBank KIT_00027 - - - Qi Ming
./. 12 c.1810G>A - p.Val604Ile Substitution - GenBank KIT_00057 - the mutation of V604I is the cause of clinical phenotype of the family with piebadism. - Qi Ming
./. 12 c.1853T>C - p.Met618Thr Substitution - GenBank KIT_00114 NA - - Qi Ming
./. 12 c.1859T>C - p.Val620Ala Substitution - GenBank KIT_00037 - the Val620Ala mutation is novel and may result in a previously undescribed phenotype with melanocyte instability, leading to progressive loss of pigmentation as well as the progressive appearance of the hyperpigmented macules - Qi Ming
./. 12 c.1861G>A - p.Ala621Thr Substitution - GenBank KIT_00035 - - - Qi Ming
./. 12 c.1862C>A - p.Ala621Asp Substitution - GenBank KIT_00064 - We detected a nucleotide transversion of C1862A which results in Ala621Asp substitution in KIT protein in patient 1 - Qi Ming
./. 12 c.1879+1G>A - - Substitution - GenBank KIT_00014 - This mutation abolishes the 5' splice site of IVS12 and would thus prevent normal splicing of the corresponding KIT mRNA precursor. - Qi Ming
./. 13 c.1889dup - p.His630GlnfsX11 Duplication - GenBank KIT_00038 - - - Qi Ming
./. 13 c.1900C>T - p.Arg634Trp Substitution - GenBank KIT_00115 NA - - Qi Ming
./. 13 c.1924A>G - p.Lys642Glu Substitution - GenBank KIT_00015 - - - Qi Ming
./. 13 c.1924A>G - p.Lys642Glu Substitution - GenBank KIT_00015 - - - Qi Ming
./. 13 c.1924A>G - p.Lys642Glu Substitution - GenBank KIT_00015 - - - Qi Ming
./. 13 c.1925_1926delAA - p.Lys642SerfsX7 Deletion - GenBank KIT_00050 - The mutation is associated with variable but generally milder phenotype. - Qi Ming
./. 13 c.1949A>T - p.His650Leu Substitution - GenBank KIT_00031 - - - Qi Ming
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