KIT

KIT proto-oncogene, receptor tyrosine kinase

Summary

This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]

Known Variants2,105 total

rsidPosition (GRCh37)AllelesClassClinVar
rs65541984:55,522,160G/Aupstream gene variant—
rs10054384:55,523,938G/A—benign
rs15603663724:55,524,126A/C—uncertain significance
rs2017781324:55,524,161G/T—likely benign
rs1409099644:55,524,168T/A—conflicting classifications of pathogenicity
rs11712727534:55,524,173G/T—likely benign
rs2020707694:55,524,177C/T—conflicting classifications of pathogenicity
rs21095206194:55,524,181G/A—uncertain significance
rs15778984514:55,524,188G/C—uncertain significance
rs15603665354:55,524,189G/A—uncertain significance
rs7557800194:55,524,190C/T—conflicting classifications of pathogenicity
rs11928072644:55,524,191G/C—uncertain significance
rs14230624664:55,524,192C/T—uncertain significance
rs17169390584:55,524,193T/C—likely benign
rs17169392214:55,524,194C/G—uncertain significance
rs17169393824:55,524,195G/C—uncertain significance
rs13570383424:55,524,196C/G—likely benign
rs17169398064:55,524,197G/A—uncertain significance
rs17169399704:55,524,198G/A—uncertain significance
rs13487569424:55,524,199C/T—likely benign
rs12857113574:55,524,200G/A—uncertain significance
rs21095208694:55,524,201C/T—uncertain significance
rs21095208754:55,524,202C/G—likely benign
rs15778985334:55,524,203T/C—uncertain significance
rs14768717004:55,524,206G/A—conflicting classifications of pathogenicity
rs21095209614:55,524,207A/G—uncertain significance
rs17169410444:55,524,210T/C—uncertain significance
rs9343662394:55,524,212C/T—uncertain significance
rs8944392424:55,524,214C/G—conflicting classifications of pathogenicity
rs21095210414:55,524,215T/C—uncertain significance
rs17169418614:55,524,216G/C—uncertain significance
rs17169420384:55,524,217C/T—likely benign
rs7533165574:55,524,218G/A—conflicting classifications of pathogenicity
rs12979128334:55,524,221C/T—likely benign
rs21095211344:55,524,224C/T—uncertain significance
rs12308084814:55,524,225T/C—uncertain significance
rs7555279734:55,524,226C/T—likely benign
rs24753234844:55,524,228T/C—uncertain significance
rs15603667104:55,524,229A/G—likely benign
rs21095212104:55,524,230C/G—uncertain significance
rs7486159754:55,524,231T/C—uncertain significance
rs21095212414:55,524,232G/A—likely benign
rs3707878114:55,524,233C/T—uncertain significance
rs21095212734:55,524,234T/G—uncertain significance
rs14907146214:55,524,236C/A—conflicting classifications of pathogenicity
rs7472531414:55,524,237G/A—uncertain significance
rs7768871254:55,524,238C/T—likely benign
rs15538817874:55,524,239G/T—uncertain significance
rs13935813944:55,524,240T/G—uncertain significance
rs21095213924:55,524,242C/A—uncertain significance
rs9313959904:55,524,243A/G—conflicting classifications of pathogenicity
rs11972332714:55,524,244G/A—likely benign
rs7699431274:55,524,246C/T—uncertain significance
rs15603668204:55,524,251G/A—uncertain significance
rs725508204:55,524,252G/A—likely benign
rs15538817944:55,524,253G/T—uncertain significance
rs7617557914:55,524,254A/G—uncertain significance
rs15778987674:55,524,255C/G—likely benign
rs12474761294:55,524,256A/G—likely benign
rs3773409104:55,524,257C/A—likely benign
rs15778987874:55,524,258C/T—likely benign
rs5368178084:55,524,259G/A—likely benign
rs3746189624:55,524,260C/T—conflicting classifications of pathogenicity
rs7659950724:55,524,261G/C—likely benign
rs13848252084:55,524,263C/G—likely benign
rs21095217604:55,524,267C/T—likely benign
rs9990204:55,524,304T/C—benign
rs725508214:55,524,338A/G—benign
rs1502307284:55,524,464A/G—benign
rs9990214:55,524,533C/G—benign
rs22370354:55,526,251G/Tintron variant—
rs38193924:55,526,694G/Aintron variant—
rs38193914:55,526,702A/Gintron variant—
rs22370304:55,532,548T/Aintron variant—
rs22370284:55,536,375T/Gintron variant—
rs131288584:55,538,347G/Cintron variant—
rs22370264:55,539,253A/Gintron variant—
rs22370254:55,541,879T/Cintron variant—
rs28557724:55,548,475T/Cintron variant—
rs27034754:55,556,040A/G——
rs770492384:55,561,548T/C—benign
rs725492994:55,561,658G/A—likely benign
rs17199935554:55,561,659A/G—likely benign
rs14813368804:55,561,660T/C—likely benign
rs7605416314:55,561,661T/A—likely benign
rs7661239904:55,561,663T/G—likely benign
rs13090417884:55,561,664G/A—likely benign
rs21096602154:55,561,668T/G—likely benign
rs7762717784:55,561,670C/G—conflicting classifications of pathogenicity
rs24754398844:55,561,672T/C—likely benign
rs21096602474:55,561,673G/A—uncertain significance
rs21096602524:55,561,674G/T—likely benign
rs21096602614:55,561,675C/T—uncertain significance
rs21096602714:55,561,678G/A—uncertain significance
rs10605025414:55,561,679C/T—likely benign
rs17199956934:55,561,680T/C—uncertain significance
rs15779523224:55,561,681C/G—conflicting classifications of pathogenicity
rs15779523294:55,561,682T/G—likely benign
rs24754399634:55,561,683T/G—uncertain significance
rs24754399784:55,561,685T/G—likely benign

Showing 100 of 2,105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.