PDGFRA

platelet derived growth factor receptor alpha

Summary

This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]

Known Variants2,422 total

rsidPosition (GRCh37)AllelesClassClinVar
rs65541624:55,093,955G/Aregulatory region variant—
rs18008134:55,094,467G/Aregulatory region variant—
rs18008124:55,094,629G/Tregulatory region variant—
rs5336273984:55,095,277G/A—uncertain significance
rs1455495834:55,095,311G/T—uncertain significance
rs1834312254:55,095,425C/T—likely benign
rs7601709614:55,095,594G/T—uncertain significance
rs749623124:55,095,714T/G—likely benign
rs76895694:55,096,398G/Aregulatory region variant—
rs76799034:55,097,373T/Cregulatory region variant—
rs732529414:55,097,591C/Tregulatory region variant—
rs48648614:55,097,685C/Tregulatory region variant—
rs43686684:55,098,954A/Gregulatory region variant—
rs12830999154:55,100,651G/A—uncertain significance
rs65541634:55,102,559T/Aintron variant—
rs68362154:55,102,741T/Cintron variant—
rs9711695344:55,106,255A/G—likely benign
rs1914823864:55,106,261C/T—likely benign
rs1475583774:55,113,623C/Gintron variant—
rs76777514:55,124,460C/Tintron variant—
rs99911654:55,124,591G/A—benign
rs731514334:55,124,767A/G—benign
rs14217492554:55,124,932A/T—uncertain significance
rs17225156094:55,124,936A/G—uncertain significance
rs17225157774:55,124,937T/G—uncertain significance
rs17225159224:55,124,939G/A—uncertain significance
rs21102350214:55,124,940G/A—uncertain significance
rs24754118094:55,124,941G/T—likely benign
rs21102350274:55,124,943C/G—uncertain significance
rs21102350364:55,124,944T/C—likely benign
rs24754118584:55,124,945T/G—uncertain significance
rs1389297554:55,124,946C/T—uncertain significance
rs21102350624:55,124,947C/T—likely benign
rs24754119604:55,124,948C/T—uncertain significance
rs7760186564:55,124,949A/G—uncertain significance
rs21102351024:55,124,950T/C—likely benign
rs7540920624:55,124,952C/T—conflicting classifications of pathogenicity
rs7531794404:55,124,953G/C—likely benign
rs14676196984:55,124,954G/T—uncertain significance
rs7644723074:55,124,955C/T—conflicting classifications of pathogenicity
rs2000905154:55,124,956G/A—likely benign
rs3751176264:55,124,960C/T—conflicting classifications of pathogenicity
rs17225185824:55,124,961T/C—uncertain significance
rs10605015194:55,124,963G/A—uncertain significance
rs7814040064:55,124,964T/C—uncertain significance
rs17225191444:55,124,965C/G—likely benign
rs21102352834:55,124,968A/G—likely benign
rs21102352874:55,124,969G/A—uncertain significance
rs14402009164:55,124,970G/C—conflicting classifications of pathogenicity
rs7505390444:55,124,971C/T—likely benign
rs17225200364:55,124,975C/T—uncertain significance
rs24754124424:55,124,977T/C—likely benign
rs15777016604:55,124,978C/T—uncertain significance
rs12863500384:55,124,979T/C—uncertain significance
rs5877785964:55,124,981A/T—conflicting classifications of pathogenicity
rs17225210334:55,124,982C/T—uncertain significance
rs17225211914:55,124,983A/G—uncertain significance
rs21102354154:55,124,985G/T—uncertain significance
rs7562525984:55,124,988C/T—uncertain significance
rs3696076864:55,124,989G/A—conflicting classifications of pathogenicity
rs15539019714:55,124,992G/A—likely benign
rs3723483894:55,124,993C/T—likely benign
rs3773106794:55,124,994C/T—likely benign
rs24754126124:55,124,995C/T—likely benign
rs5386020844:55,124,996A/C—likely benign
rs21102354954:55,124,997G/A—likely benign
rs24754126494:55,124,999C/T—likely benign
rs24754126584:55,125,000C/T—likely benign
rs9093691984:55,125,002C/T—likely benign
rs24754126984:55,125,004C/G—likely benign
rs23034304:55,125,058A/T—benign
rs24754208134:55,127,243A/G—likely benign
rs7745807794:55,127,244G/A—likely benign
rs5439620004:55,127,245C/T—likely benign
rs7676942994:55,127,246G/C—likely benign
rs21102415104:55,127,248G/T—likely benign
rs21102415144:55,127,249C/G—likely benign
rs12730009884:55,127,251T/A—likely benign
rs21102415264:55,127,252C/T—likely benign
rs7506402264:55,127,253C/T—likely benign
rs7563054374:55,127,256T/C—likely benign
rs24754209134:55,127,257T/C—likely benign
rs21102415504:55,127,258G/T—likely benign
rs21102415604:55,127,259C/T—uncertain significance
rs7666006874:55,127,262G/T—conflicting classifications of pathogenicity
rs8679538034:55,127,263G/A—likely benign
rs15539023404:55,127,266G/A—likely benign
rs21102416174:55,127,269C/T—likely benign
rs15539023424:55,127,270C/G—uncertain significance
rs10605042534:55,127,272A/C—likely benign
rs24754211054:55,127,275C/G—uncertain significance
rs9755103284:55,127,276C/T—conflicting classifications of pathogenicity
rs21102416914:55,127,281C/T—likely benign
rs15777049454:55,127,290A/G—likely benign
rs21102417224:55,127,291T/C—likely benign
rs7584253144:55,127,292T/C—benign
rs5296664304:55,127,293A/C—uncertain significance
rs24754212644:55,127,294C/T—uncertain significance
rs21102417734:55,127,296C/G—likely benign
rs7468466734:55,127,297T/C—conflicting classifications of pathogenicity

Showing 100 of 2,422 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.