PTPRS

protein tyrosine phosphatase receptor type S

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, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

Known Variants237 total

rsidPosition (GRCh37)AllelesClassClinVar
rs123018008119:5,206,853C/G—uncertain significance
rs18673151219:5,206,863C/A—likely benign
rs11319364019:5,207,926T/G—likely benign
rs37523746419:5,207,939C/T—likely benign
rs14159738619:5,207,960G/C—likely benign
rs76784454919:5,207,970A/G—uncertain significance
rs36852840019:5,207,999G/A—uncertain significance
rs77295665919:5,208,036G/T—uncertain significance
rs75915562719:5,208,061C/T—uncertain significance
rs251227774119:5,208,316G/T—uncertain significance
rs11511856919:5,208,319G/A—benign
rs14847835319:5,208,335G/A—likely benign
rs90350442419:5,208,348C/T—uncertain significance
rs14531309119:5,208,355C/T—likely benign
rs197823719:5,209,641C/A——
rs116906130119:5,210,598C/T—uncertain significance
rs114369919:5,210,762G/Asynonymous variant—
rs117624657419:5,210,773T/C—uncertain significance
rs37109129219:5,210,777C/T—likely benign
rs14070448719:5,210,795C/T—likely benign
rs11618809519:5,210,801G/A—likely benign
rs4127686419:5,211,612A/G—benign
rs251233471019:5,211,619C/G—uncertain significance
rs11579699919:5,211,624G/A—benign
rs126048532019:5,211,685T/C—uncertain significance
rs75737550219:5,211,706C/T—uncertain significance
rs14510893619:5,211,707G/A—uncertain significance
rs75065675719:5,211,714G/T—uncertain significance
rs140897024619:5,211,737C/T—uncertain significance
rs18839366319:5,211,753C/T—likely benign
rs54468764019:5,211,779G/A—uncertain significance
rs54944917919:5,212,002C/T—uncertain significance
rs204094686119:5,212,046T/C—uncertain significance
rs6172977519:5,212,087G/A—benign
rs75108580819:5,212,104C/T—uncertain significance
rs6172977419:5,212,105G/A—benign
rs204095557819:5,212,128C/T—uncertain significance
rs14440629019:5,212,129C/T—likely benign
rs52964329419:5,212,130G/A—uncertain significance
rs11575942719:5,212,165C/T—likely benign
rs14236497419:5,212,209G/A—uncertain significance
rs11563498719:5,212,225G/A—likely benign
rs57174323619:5,212,257C/T—uncertain significance
rs19995516319:5,212,258G/A—likely benign
rs11672727719:5,212,267G/A—benign
rs14047297719:5,212,361C/T—likely pathogenic
rs37222648519:5,212,381G/A—uncertain significance
rs55841077619:5,212,403G/A—uncertain significance
rs6172950819:5,212,422C/T—likely benign
rs11564624619:5,212,449C/T—likely benign
rs74763774919:5,212,455C/T—likely benign
rs6172976919:5,214,429C/T—likely benign
rs77337791919:5,214,430G/A—uncertain significance
rs54090232219:5,214,440T/C—uncertain significance
rs14715245919:5,214,457G/A—uncertain significance
rs6172976819:5,214,486C/T—benign
rs11651562919:5,214,604C/T—uncertain significance
rs13913212419:5,214,612G/A—uncertain significance
rs76580615919:5,214,613C/T—uncertain significance
rs14993468119:5,214,614C/T—likely benign
rs55958186819:5,214,674C/T—likely benign
rs93041629119:5,214,682T/C—uncertain significance
rs37394093819:5,214,700G/C—uncertain significance
rs11525899919:5,214,734A/G—benign
rs20022970819:5,215,293G/A—likely benign
rs142023260519:5,215,356C/T—uncertain significance
rs75957176719:5,215,403C/T—likely benign
rs11656518219:5,215,421G/A—likely benign
rs204134287319:5,215,500T/G—likely benign
rs11191882719:5,215,566C/T—likely benign
rs122608920019:5,215,574C/T—uncertain significance
rs75341768219:5,216,748G/A—uncertain significance
rs214525219119:5,218,417G/A—uncertain significance
rs20193495219:5,218,451C/T—uncertain significance
rs251249412419:5,218,461C/G—uncertain significance
rs136133935719:5,218,488C/T—uncertain significance
rs37033263119:5,218,494C/T—uncertain significance
rs14575106919:5,218,511C/T—uncertain significance
rs251249548819:5,218,518T/C—uncertain significance
rs37034322219:5,218,802C/T—uncertain significance
rs74922858619:5,218,803G/A—likely benign
rs13868403819:5,219,329G/C—likely benign
rs14601273219:5,219,415C/T—uncertain significance
rs76190483519:5,219,439C/T—uncertain significance
rs13960874519:5,219,952G/C—benign
rs6174310519:5,219,956G/A—benign
rs14000723419:5,219,971G/A—likely benign
rs20209118619:5,219,993C/T—uncertain significance
rs75222270619:5,220,021C/T—uncertain significance
rs37339285619:5,220,028G/A—likely benign
rs37261907819:5,220,051G/C—uncertain significance
rs126545060719:5,220,059G/T—uncertain significance
rs14291863419:5,220,098C/G—uncertain significance
rs137730330019:5,220,104A/C—uncertain significance
rs139094286219:5,220,117G/A—uncertain significance
rs11546996319:5,220,134C/T—uncertain significance
rs77185369019:5,220,146C/T—uncertain significance
rs76269687619:5,220,279G/T—uncertain significance
rs6172976219:5,220,312G/A—benign
rs78104831719:5,220,354T/C—uncertain significance

Showing 100 of 237 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.