TRPC6

transient receptor potential cation channel subfamily C member 6

Summary

The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]

Known Variants375 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37570150611:101,322,300G/C—uncertain significance
rs74722999111:101,322,306C/T—uncertain significance
rs18093001611:101,322,337A/G—uncertain significance
rs88604753511:101,322,510A/G—uncertain significance
rs185876960111:101,322,539T/C—uncertain significance
rs11789534311:101,322,597G/A—benign
rs14265533511:101,322,648A/C—uncertain significance
rs185877191211:101,322,654T/C—uncertain significance
rs20129292611:101,322,666C/T—uncertain significance
rs14603373611:101,322,716T/C—benign
rs13855892011:101,322,726C/G—uncertain significance
rs88604753611:101,322,865G/A—uncertain significance
rs185877707811:101,322,866G/A—uncertain significance
rs20198630811:101,322,894C/T—uncertain significance
rs20030774711:101,323,018C/T—uncertain significance
rs20070571911:101,323,111G/T—uncertain significance
rs793139911:101,323,133A/C—benign
rs11291617111:101,323,156A/G—benign
rs20221062911:101,323,179A/T—uncertain significance
rs14471416311:101,323,349C/T—benign
rs19961930311:101,323,350G/A—benign
rs19958374011:101,323,372G/C—benign
rs185878915511:101,323,393C/G—uncertain significance
rs19060682011:101,323,468G/A—benign
rs19987867011:101,323,511T/G—uncertain significance
rs86821532411:101,323,539A/G—uncertain significance
rs87885317911:101,323,600G/A—drug response
rs20128590711:101,323,646A/C—benign
rs20079104711:101,323,673G/A—benign
rs18797027411:101,323,677G/A—benign
rs19956605511:101,323,683G/A—likely benign
rs185879716211:101,323,688A/T—uncertain significance
rs13933001111:101,323,712G/A—conflicting classifications of pathogenicity
rs75348971611:101,323,731T/C—likely benign
rs74571750311:101,323,750T/C—conflicting classifications of pathogenicity
rs1280539811:101,323,770C/T—benign
rs14852993411:101,323,771T/C—uncertain significance
rs213663519611:101,323,787G/A—uncertain significance
rs249727488411:101,323,790G/C—uncertain significance
rs12143439511:101,323,793C/Tmissense variantpathogenic
rs185880012611:101,323,795T/C—uncertain significance
rs159151791211:101,323,798C/A—pathogenic
rs12143439411:101,323,799G/Amissense variantpathogenic
rs159151792111:101,323,804C/A—uncertain significance
rs159151792911:101,323,814C/T—uncertain significance
rs185880109911:101,323,838C/T—uncertain significance
rs87885318011:101,323,845A/G—drug response
rs11599059011:101,323,906C/T—likely benign
rs1280439111:101,323,983G/A—benign
rs87885318111:101,324,303C/A—drug response
rs87885318211:101,324,352G/A—drug response
rs87885318311:101,324,354G/C—drug response
rs185881610711:101,324,384C/A—likely pathogenic
rs77124890411:101,324,385G/A—benign
rs249727740211:101,324,400C/T—likely benign
rs123254798711:101,324,404T/C—uncertain significance
rs12143439311:101,324,405T/Astop gainedpathogenic
rs76796881811:101,324,410A/G—uncertain significance
rs213663656111:101,324,414G/A—uncertain significance
rs185881726611:101,324,420G/A—pathogenic
rs92644752411:101,324,424T/G—likely benign
rs14488374611:101,324,442C/T—likely benign
rs75132311511:101,324,451T/G—conflicting classifications of pathogenicity
rs712112411:101,325,578A/T—benign
rs144218629811:101,325,740C/T—likely benign
rs37008178111:101,325,762G/A—uncertain significance
rs116592376011:101,325,783A/C—likely pathogenic
rs7298420911:101,325,788G/A—benign
rs75605375011:101,325,791A/G—likely benign
rs37717220811:101,325,809A/G—uncertain significance
rs20209135511:101,325,813G/C—uncertain significance
rs19981004711:101,325,829C/T—conflicting classifications of pathogenicity
rs185885361911:101,325,831A/T—uncertain significance
rs249728186511:101,325,843A/C—likely benign
rs87885318411:101,325,846A/G—drug response
rs185885415011:101,325,849T/A—likely benign
rs87885318511:101,325,876T/C—drug response
rs710508311:101,325,970G/A—benign
rs792802811:101,326,119G/A—benign
rs1122477311:101,340,007A/G—benign
rs119557269611:101,340,146A/G—likely benign
rs20197991211:101,340,157C/G—uncertain significance
rs19994873111:101,340,179T/A—uncertain significance
rs87885318611:101,340,182T/Csynonymous variantdrug response
rs87885318711:101,340,187G/Amissense variantdrug response
rs13851968711:101,340,201C/T—uncertain significance
rs87885318811:101,340,207A/Gmissense variantdrug response
rs78022056911:101,340,224T/C—likely benign
rs249732344811:101,340,234T/G—conflicting classifications of pathogenicity
rs88604753711:101,340,243T/C—uncertain significance
rs87885318911:101,340,254A/G—drug response
rs14785618211:101,341,895A/C—likely benign
rs75052572711:101,341,915T/C—conflicting classifications of pathogenicity
rs20152274411:101,341,931C/G—conflicting classifications of pathogenicity
rs86682024311:101,341,932T/G—uncertain significance
rs78171616711:101,341,945T/C—uncertain significance
rs74860277411:101,341,948T/C—uncertain significance
rs185928493011:101,341,954C/T—uncertain significance
rs77827315011:101,341,965C/T—likely benign
rs20128900311:101,341,986C/G—likely benign

Showing 100 of 375 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.