SRC

SRC proto-oncogene, non-receptor tyrosine kinase

Summary

This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants71 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7601239020:35,985,423C/Aintron variant—
rs601799620:35,986,653G/Aintron variant—
rs394020220:35,994,899G/Cregulatory region variant—
rs36754323720:36,012,568C/T—not provided
rs36754323820:36,012,617G/A—not provided
rs36754323920:36,012,641G/T—not provided
rs480961020:36,013,017A/G—benign
rs480961120:36,013,023A/G—benign
rs7622257220:36,013,025A/G—benign
rs481058220:36,013,029A/G—benign
rs8031502020:36,013,041T/G—benign
rs7572003220:36,013,043A/T—benign
rs7896792020:36,013,044T/G—benign
rs7961167520:36,013,049T/C—benign
rs37450426620:36,013,053A/G—benign
rs1304391220:36,013,055T/G—benign
rs1304391320:36,013,063T/G—benign
rs1303979720:36,013,065A/G—benign
rs5976247620:36,013,080A/G—benign
rs1303822420:36,013,103T/C—benign
rs145132678720:36,014,523C/T—uncertain significance
rs251634736020:36,014,554G/T—uncertain significance
rs612491420:36,016,243T/Cintron variant—
rs601825620:36,022,154T/Cintron variant—
rs14932572920:36,022,334A/G—likely benign
rs144038078120:36,022,370G/A—likely benign
rs78132228020:36,022,376C/T—likely benign
rs5618260920:36,022,405C/T—likely benign
rs601825720:36,022,539T/Cintron variant—
rs76935860220:36,022,602C/T—uncertain significance
rs55906010320:36,022,652C/T—likely benign
rs14388983320:36,022,656G/T—uncertain significance
rs37612001220:36,022,689G/T—uncertain significance
rs601211720:36,024,560C/T—benign
rs20117070420:36,024,572C/T—likely benign
rs76681085020:36,024,593C/T—likely benign
rs15048861420:36,024,647C/T—likely benign
rs36754324020:36,024,653C/T—not provided
rs14526346820:36,024,695G/A—benign
rs36754324120:36,026,125C/T—not provided
rs14804919820:36,026,209C/T—uncertain significance
rs36754324220:36,026,244C/T—uncertain significance
rs75718873120:36,026,247G/A—likely benign
rs124609385620:36,028,527A/G—uncertain significance
rs134070547320:36,028,529G/T—uncertain significance
rs11184492620:36,028,533C/A—likely benign
rs207071666920:36,028,548T/C—uncertain significance
rs251646125620:36,028,577C/T—uncertain significance
rs75849293220:36,028,588C/T—likely benign
rs86759333820:36,028,676G/A—uncertain significance
rs251646269720:36,028,702G/C—uncertain significance
rs5627350620:36,030,658T/C—benign
rs19990907120:36,030,829C/T—likely benign
rs14926954120:36,030,849C/A—likely benign
rs5640840620:36,030,855G/A—benign
rs75635218520:36,030,864G/A—likely benign
rs36754324320:36,030,921C/G—uncertain significance
rs11273987820:36,030,945T/C—benign
rs36754324420:36,030,960C/T—not provided
rs8002390320:36,030,975G/A—benign
rs36754324520:36,030,984G/A—not provided
rs214579220:36,031,097A/G—benign
rs36754324620:36,031,204C/A—not provided
rs36754324720:36,031,268C/T—uncertain significance
rs117391432120:36,031,610G/A—uncertain significance
rs11789943620:36,031,638G/A—likely benign
rs36754324820:36,031,645G/A—uncertain significance
rs87925526820:36,031,750G/Amissense variantpathogenic
rs251649300020:36,031,756C/G—uncertain significance
rs12191331420:36,031,762C/Tstop gainedpathogenic
rs75135911220:36,031,767C/T—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.