PTPRC

protein tyrosine phosphatase receptor type C

Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]

Known Variants977 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1144947341:198,603,298C/T—uncertain significance
rs757251591:198,608,010T/A—likely benign
rs5754709801:198,608,114C/T—likely benign
rs7591828881:198,608,401G/T—uncertain significance
rs7739987131:198,608,404C/T—likely benign
rs16624397701:198,608,407G/C—uncertain significance
rs7610690101:198,608,414T/A—uncertain significance
rs7667202301:198,608,422A/G—likely benign
rs1414146741:198,608,437C/T—likely benign
rs7810800511:198,608,450G/A—uncertain significance
rs1998523321:198,608,455A/C—likely benign
rs25273867851:198,608,472G/A—likely pathogenic
rs16624477451:198,608,479C/T—likely benign
rs7559273161:198,608,480A/G—likely benign
rs5647689021:198,608,482G/A—likely benign
rs7797299171:198,608,484A/T—likely benign
rs13787225761:198,608,489A/G—likely benign
rs7489016521:198,608,490A/G—likely benign
rs353202321:198,618,104C/Aintron variant—
rs800999931:198,622,447G/T——
rs766210701:198,627,999G/Aintron variant—
rs748621091:198,640,047A/Gupstream gene variant—
rs741347831:198,645,051G/Adownstream gene variant—
rs1378577071:198,648,570C/Tregulatory region variant—
rs176690321:198,653,174A/Gupstream gene variant—
rs23599521:198,656,407A/Gintron variant—
rs760837781:198,660,012C/Aintron variant—
rs120646351:198,661,206T/G—benign
rs745871591:198,662,905A/G—benign
rs789586741:198,663,346A/G—benign
rs121349401:198,663,522C/T—likely benign
rs121204741:198,665,647T/C—likely benign
rs763934211:198,665,699A/G—benign
rs16662189481:198,665,821C/T—likely benign
rs7743224801:198,665,822A/C—likely benign
rs25277433491:198,665,829A/C—likely benign
rs25277433601:198,665,832A/C—likely benign
rs8963551351:198,665,838C/G—uncertain significance
rs14276858141:198,665,851A/G—likely benign
rs9173396561:198,665,854A/G—likely benign
rs15718445161:198,665,860G/C—uncertain significance
rs11697524771:198,665,863C/G—likely benign
rs11594570791:198,665,865G/T—uncertain significance
rs1157971041:198,665,872A/G—likely benign
rs1494884881:198,665,879A/G—conflicting classifications of pathogenicity
rs2000181301:198,665,881T/C—likely benign
rs7464807521:198,665,885C/A—uncertain significance
rs13292292221:198,665,890A/G—likely benign
rs25277437201:198,665,893T/A—likely benign
rs1147643261:198,665,894A/G—likely benign
rs12941258951:198,665,902C/T—likely benign
rs176126481:198,665,917C/Gsynonymous variantlikely benign
rs7746807291:198,665,918G/A—uncertain significance
rs7617644181:198,665,920A/G—likely benign
rs15718446791:198,665,930G/A—uncertain significance
rs7766963941:198,665,936G/T—pathogenic
rs16662275301:198,665,956C/T—likely benign
rs9758851121:198,665,966C/G—uncertain significance
rs15718447191:198,665,969A/T—uncertain significance
rs13647767971:198,665,972C/T—uncertain significance
rs25277442501:198,665,978A/C—uncertain significance
rs13293607131:198,665,982C/T—uncertain significance
rs3750512211:198,665,988C/T—uncertain significance
rs1437020971:198,665,989C/T—likely benign
rs1497989401:198,666,000C/T—conflicting classifications of pathogenicity
rs7803441531:198,666,001G/A—likely benign
rs617578041:198,666,014A/G—uncertain significance
rs21023851901:198,666,019T/C—likely benign
rs7595054571:198,666,021G/A—uncertain significance
rs16662321061:198,666,026T/G—uncertain significance
rs7698345791:198,666,028T/C—likely benign
rs7756102931:198,666,034C/G—likely benign
rs25277447451:198,666,045A/G—likely benign
rs7640084331:198,666,050A/G—likely benign
rs25277447721:198,666,053G/A—likely benign
rs7511187291:198,666,058T/A—likely benign
rs22966181:198,666,232G/A—benign
rs3776159751:198,668,673A/T—likely benign
rs25277578321:198,668,675C/A—likely benign
rs25277578411:198,668,676T/C—likely benign
rs3699174051:198,668,679C/T—likely benign
rs25277578821:198,668,683C/T—likely benign
rs16663615631:198,668,684C/T—likely benign
rs13183103961:198,668,697T/G—likely benign
rs21023931721:198,668,702C/G—pathogenic
rs9887791411:198,668,704G/A—uncertain significance
rs21023931961:198,668,705T/C—uncertain significance
rs25277582141:198,668,712G/T—likely benign
rs7779500171:198,668,717A/C—uncertain significance
rs2017513751:198,668,731G/T—uncertain significance
rs12258761191:198,668,733A/G—likely benign
rs14506581021:198,668,736C/T—likely benign
rs2021807021:198,668,741A/C—uncertain significance
rs14866188181:198,668,745G/A—likely benign
rs15532378821:198,668,746C/A—uncertain significance
rs7613271571:198,668,748C/G—likely benign
rs412699051:198,668,761G/C—likely benign
rs7659279301:198,668,765C/T—uncertain significance
rs3709073151:198,668,768A/G—uncertain significance
rs7791069801:198,668,770A/T—conflicting classifications of pathogenicity

Showing 100 of 977 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.