BMPR1A

bone morphogenetic protein receptor type 1A

Summary

The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]

Known Variants1,500 total

rsidPosition (GRCh37)AllelesClassClinVar
rs707036910:88,515,966G/A—benign
rs1120216310:88,516,068G/T—likely benign
rs14074573910:88,516,090G/C—benign
rs57033249910:88,516,170T/G—likely benign
rs6185856210:88,516,342C/T—benign
rs125704358110:88,516,410G/A—uncertain significance
rs102792264710:88,516,444A/C—uncertain significance
rs88604735710:88,516,471G/A—uncertain significance
rs123024747010:88,516,476G/A—uncertain significance
rs88604735810:88,516,497T/C—uncertain significance
rs3475505210:88,516,595T/C—benign
rs37147180210:88,516,608C/T—uncertain significance
rs158970029810:88,516,630C/T—uncertain significance
rs73088143810:88,516,657A/G—conflicting classifications of pathogenicity
rs88807491010:88,516,661G/A—likely benign
rs133191638210:88,516,667T/C—likely benign
rs155487517310:88,516,669G/C—likely benign
rs105752079310:88,516,691C/G—likely benign
rs120762136010:88,516,694G/C—benign
rs89687744510:88,516,696G/A—likely benign
rs7918199110:88,516,901C/T—likely benign
rs994339410:88,517,080G/A—benign
rs7334615410:88,517,814T/A—likely benign
rs707216610:88,518,455T/G—benign
rs6185856310:88,518,493T/C—likely benign
rs1120216410:88,518,593C/T—benign
rs493426110:88,518,956G/A—benign
rs8029916310:88,518,996C/T—benign
rs6003104310:88,519,574G/C—benign
rs1277130110:88,519,714C/T—benign
rs19252929310:88,519,829T/C—benign
rs707458210:88,520,409A/G—benign
rs1120216610:88,520,763A/G—benign
rs11301203910:88,521,285G/T—likely benign
rs709580410:88,521,971T/A—benign
rs14006821710:88,522,094G/C—likely benign
rs7334615710:88,522,241G/A—likely benign
rs1120216710:88,522,313T/C—benign
rs709638810:88,522,353T/C—benign
rs1120216810:88,522,408G/A—benign
rs11465669110:88,522,595T/C—benign
rs790264110:88,522,641G/A—likely benign
rs1159286710:88,522,692C/T—benign
rs1159551510:88,522,716T/C—benign
rs288327810:88,522,893C/T—benign
rs288327910:88,522,942C/T—benign
rs235378610:88,522,961G/A—benign
rs288328010:88,523,137C/T—benign
rs493340810:88,523,138G/A—benign
rs18176834910:88,523,498C/T—likely benign
rs212505810:88,523,633T/C—benign
rs493340910:88,523,639C/G—benign
rs11128199510:88,523,704C/T—benign
rs454231410:88,523,739A/G—benign
rs450811210:88,523,800A/G—benign
rs11333798210:88,523,810A/G—benign
rs5852150810:88,524,093A/G—benign
rs1276201610:88,524,173G/A—benign
rs658603410:88,524,209T/G—benign
rs658603510:88,524,448G/C—benign
rs3403168810:88,524,830A/G—likely benign
rs708812610:88,524,969G/A—benign
rs707280310:88,525,145A/G—benign
rs18355567810:88,525,219C/T—benign
rs148752790210:88,525,240C/A—likely benign
rs7334616510:88,525,305A/G—benign
rs3500356910:88,525,488G/A—benign
rs790538010:88,525,868T/C—benign
rs11724044810:88,525,954G/T—likely benign
rs791649610:88,526,034G/C—benign
rs791690310:88,526,263G/A—benign
rs14703755710:88,526,821C/T—likely benign
rs1723196810:88,526,921A/C—benign
rs709003910:88,527,487T/C—benign
rs7334616810:88,528,249T/C—likely benign
rs1277286110:88,528,362T/C—likely benign
rs55606285210:88,544,842A/C——
rs91591870210:88,554,094C/T—uncertain significance
rs709502510:88,579,360C/G——
rs385828610:88,592,946C/Aintron variant—
rs184238891710:88,598,612T/C—uncertain significance
rs105752024010:88,598,613T/C—likely benign
rs99164627010:88,598,621G/A—uncertain significance
rs92599460610:88,598,627T/C—likely benign
rs105752210410:88,598,725C/T—likely benign
rs99437395310:88,598,754A/C—likely benign
rs18844166610:88,599,038C/Tintron variant—
rs1120222110:88,602,314T/C——
rs1120222210:88,602,486C/Gintron variant—
rs53596638810:88,613,442C/T——
rs14393943810:88,614,390G/Adownstream gene variant—
rs57819595510:88,616,577C/A——
rs1078852810:88,616,771G/Aupstream gene variant—
rs14936098710:88,617,239C/Tregulatory region variant—
rs1277750410:88,635,438G/A—likely benign
rs155488677910:88,635,609A/G—likely benign
rs74844411910:88,635,613T/G—uncertain significance
rs105752251810:88,635,628C/G—likely benign
rs105752024210:88,635,629G/A—likely benign
rs88604735910:88,635,636A/G—uncertain significance

Showing 100 of 1,500 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.