NTRK3

neurotrophic receptor tyrosine kinase 3

Summary

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

Known Variants100 total

rsidPosition (GRCh37)AllelesClassClinVar
rs101741215:88,412,143G/Aintergenic variant—
rs717642915:88,419,424T/Gdownstream gene variant—
rs2870723615:88,420,067C/T—benign
rs76925506215:88,420,306C/T—uncertain significance
rs156097515:88,423,463T/C—benign
rs77259815615:88,423,538T/C—uncertain significance
rs134554226215:88,423,579A/G—likely benign
rs211765515:88,428,702C/A—benign
rs1163320015:88,429,076G/A—benign
rs5586843315:88,429,141G/A—benign
rs7345262815:88,437,671T/Gintron variant—
rs87913115:88,472,170A/G—benign
rs37707006515:88,472,461G/A—likely benign
rs13939290415:88,472,622G/A—benign
rs15006386315:88,472,659A/G—likely benign
rs100604615:88,476,166C/A—benign
rs214195413215:88,476,264C/G—other
rs76910306415:88,476,297G/T—uncertain significance
rs56308031515:88,476,314C/A—likely benign
rs227758015:88,476,365G/A—benign
rs119586083215:88,476,367C/T—uncertain significance
rs74880032515:88,476,380A/G—likely benign
rs11693264315:88,476,686T/C—benign
rs7707145815:88,483,594G/A—benign
rs3459546015:88,483,866A/G—benign
rs255015752615:88,483,880T/G—uncertain significance
rs36870103115:88,483,884C/T—likely benign
rs14474522215:88,483,892G/C—uncertain significance
rs5579974715:88,483,905G/A—benign
rs803391815:88,490,098G/T——
rs2873543715:88,514,855G/Cintron variant—
rs2852133715:88,521,280C/Gintron variant—
rs488720215:88,523,033T/G—benign
rs488734115:88,523,035C/T—benign
rs1694109715:88,524,788A/G—benign
rs6201923015:88,537,363G/T——
rs803010715:88,547,290C/G——
rs53692299915:88,563,213T/C——
rs99990515:88,563,871G/Cintron variant—
rs56081540515:88,564,260G/C——
rs2843431715:88,569,277T/Cintron variant—
rs488734815:88,571,534A/Gregulatory region variant—
rs7402776215:88,575,886C/T—benign
rs20191874615:88,576,170C/T—benign
rs36870812915:88,576,178C/T—uncertain significance
rs222991015:88,576,185G/T—benign
rs75056599515:88,576,214C/T—uncertain significance
rs222990915:88,576,215G/A—benign
rs14860053715:88,594,393C/Tintron variant—
rs1694126115:88,655,520G/Cintron variant—
rs980676215:88,661,739A/Gintron variant—
rs211425215:88,664,676C/T——
rs142630015:88,669,163T/C—benign
rs2857336615:88,669,192G/A—benign
rs382588215:88,669,382G/C—benign
rs183457315:88,670,113T/A—benign
rs7817921315:88,670,730C/G—benign
rs1694132115:88,670,758T/G—benign
rs76791909515:88,671,959G/A—uncertain significance
rs36836091715:88,671,969C/T—likely benign
rs14124163015:88,671,982A/Gintron variant—
rs19249970015:88,678,363G/A—likely benign
rs36822655915:88,678,370T/C—uncertain significance
rs142093023315:88,678,372G/C—uncertain significance
rs75461087715:88,678,447C/T—likely benign
rs97815633815:88,678,484T/A—uncertain significance
rs138908194515:88,678,501G/C—likely benign
rs14569922115:88,678,606C/A—likely benign
rs205958815:88,678,680T/C—benign
rs146952278415:88,679,150C/A—uncertain significance
rs77155602915:88,679,231G/A—uncertain significance
rs5574813215:88,679,235A/G—likely benign
rs14927542915:88,679,689G/C—benign
rs75267578515:88,679,708T/C—uncertain significance
rs76778912615:88,679,803G/A—likely benign
rs111030615:88,680,100A/G—benign
rs112899415:88,680,684A/G—benign
rs255108970115:88,680,741C/T—likely benign
rs716804015:88,680,943G/T—benign
rs717499515:88,680,987T/A—benign
rs378440615:88,685,330C/Tdownstream gene variant—
rs110491815:88,723,712T/A——
rs6201926815:88,726,405A/G—benign
rs5572590415:88,726,586A/G—benign
rs488737915:88,727,336C/G—benign
rs20122299015:88,727,470G/A—likely benign
rs14799297915:88,727,501G/A—conflicting classifications of pathogenicity
rs488738015:88,727,751A/T—benign
rs1232469315:88,743,394A/Gintron variant—
rs14597950815:88,792,571T/A——
rs5962899015:88,798,812A/T—benign
rs90729055215:88,799,237C/A—uncertain significance
rs37312340415:88,799,245C/T—uncertain significance
rs76992009815:88,799,248C/G—uncertain significance
rs76185188515:88,799,254T/C—uncertain significance
rs77862985015:88,799,301G/C—likely benign
rs20198550215:88,799,302G/A—uncertain significance
rs20082261015:88,799,324C/A—likely benign
rs76160926415:88,799,344C/T—uncertain significance
rs14016630515:88,799,385C/T—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.