TGFBR1

transforming growth factor beta receptor 1

Summary

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Known Variants803 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11568745	9:101,867,397	C/T	—	benign
rs986586601	9:101,867,419	C/A	—	uncertain significance
rs1826365648	9:101,867,432	G/A	—	uncertain significance
rs990089169	9:101,867,439	C/G	—	likely benign
rs886063219	9:101,867,445	C/A	—	uncertain significance
rs1482586656	9:101,867,455	C/T	—	benign
rs1404137226	9:101,867,457	G/A	—	uncertain significance
rs886063220	9:101,867,475	T/C	—	conflicting classifications of pathogenicity
rs199624653	9:101,867,478	C/G	—	uncertain significance
rs1220994912	9:101,867,483	G/A	—	uncertain significance
rs1007933061	9:101,867,484	G/A	—	conflicting classifications of pathogenicity
rs1170998539	9:101,867,485	A/G	—	uncertain significance
rs200224304	9:101,867,486	C/T	—	likely benign
rs2490932259	9:101,867,489	T/C	—	uncertain significance
rs1826369639	9:101,867,494	G/A	—	uncertain significance
rs1564120661	9:101,867,495	C/T	—	likely benign
rs1429700300	9:101,867,497	G/A	—	uncertain significance
rs1331965992	9:101,867,498	C/T	—	uncertain significance
rs1365442897	9:101,867,499	G/A	—	likely benign
rs2118163054	9:101,867,500	G/A	—	uncertain significance
rs1826370291	9:101,867,501	T/G	—	uncertain significance
rs1165876259	9:101,867,502	C/T	—	benign
rs1400751350	9:101,867,505	T/A	—	likely benign
rs863223802	9:101,867,507	C/T	—	conflicting classifications of pathogenicity
rs863223803	9:101,867,510	C/T	—	uncertain significance
rs2490932686	9:101,867,514	T/C	—	likely benign
rs2490932701	9:101,867,515	C/T	—	uncertain significance
rs886038980	9:101,867,519	G/C	—	uncertain significance
rs1057524279	9:101,867,522	T/C	—	uncertain significance
rs2118164001	9:101,867,523	G/A	—	likely benign
rs1826371284	9:101,867,526	C/G	—	likely benign
rs1826371375	9:101,867,528	T/C	—	uncertain significance
rs1473259643	9:101,867,529	C/T	—	likely benign
rs2490932922	9:101,867,530	C/T	—	uncertain significance
rs1826371527	9:101,867,532	C/T	—	likely benign
rs1021523079	9:101,867,533	G/A	—	conflicting classifications of pathogenicity
rs878854714	9:101,867,536	C/T	—	conflicting classifications of pathogenicity
rs2118164469	9:101,867,537	T/A	—	uncertain significance
rs1826371936	9:101,867,538	G/C	—	likely benign
rs1243596219	9:101,867,539	G/A	—	uncertain significance
rs1217107691	9:101,867,543	C/T	—	uncertain significance
rs1333080544	9:101,867,546	C/T	—	uncertain significance
rs1554695407	9:101,867,549	C/T	—	uncertain significance
rs1260360529	9:101,867,552	C/T	—	uncertain significance
rs1437415348	9:101,867,553	G/A	—	likely benign
rs992252059	9:101,867,558	C/T	—	uncertain significance
rs1221329451	9:101,867,562	G/T	—	likely benign
rs1295281826	9:101,867,563	G/A	—	likely benign
rs2490933489	9:101,867,564	C/T	—	uncertain significance
rs1826374147	9:101,867,571	C/T	—	likely benign
rs2490933598	9:101,867,572	C/T	—	uncertain significance
rs1246631676	9:101,867,574	G/C	—	likely benign
rs1826374374	9:101,867,575	G/C	—	uncertain significance
rs1381354900	9:101,867,576	G/T	—	uncertain significance
rs1291691916	9:101,867,578	G/T	—	uncertain significance
rs1319771049	9:101,867,581	A/G	—	conflicting classifications of pathogenicity
rs2490933887	9:101,867,587	G/A	—	uncertain significance
rs1452890040	9:101,867,590	C/T	—	uncertain significance
rs1220371168	9:101,867,591	G/C	—	likely benign
rs1826375985	9:101,867,596	C/G	—	likely benign
rs1198082830	9:101,867,598	C/T	—	conflicting classifications of pathogenicity
rs2490934039	9:101,867,600	G/A	—	likely benign
rs2118167539	9:101,867,601	C/A	—	likely benign
rs1237617009	9:101,867,602	G/A	—	likely benign
rs10733708	9:101,868,742	G/A	intron variant	—
rs6478974	9:101,874,403	A/T	intron variant	—
rs10739778	9:101,875,789	A/G	—	—
rs2490095827	9:101,890,271	A/G	—	uncertain significance
rs7041311	9:101,890,980	A/G	—	benign
rs2490104482	9:101,891,118	A/C	—	likely benign
rs754909805	9:101,891,119	A/T	—	likely benign
rs2490104513	9:101,891,120	T/C	—	likely benign
rs749295577	9:101,891,131	T/C	—	likely benign
rs771169283	9:101,891,132	T/C	—	likely benign
rs1554698879	9:101,891,133	C/A	—	uncertain significance
rs2490104710	9:101,891,136	G/A	—	pathogenic
rs1554698880	9:101,891,137	C/T	—	uncertain significance
rs779055286	9:101,891,138	G/A	—	likely benign
rs2118563191	9:101,891,141	A/G	—	likely benign
rs2490105005	9:101,891,154	C/T	—	uncertain significance
rs1480867762	9:101,891,156	C/A	—	uncertain significance
rs201267786	9:101,891,159	C/T	—	conflicting classifications of pathogenicity
rs1827122219	9:101,891,165	A/G	—	likely benign
rs2118564127	9:101,891,171	C/T	—	likely benign
rs387906696	9:101,891,173	A/G	—	uncertain significance
rs369226180	9:101,891,174	T/C	—	likely benign
rs1588576221	9:101,891,188	C/G	—	uncertain significance
rs587776865	9:101,891,193	G/C	—	uncertain significance
rs761368421	9:101,891,195	G/T	—	uncertain significance
rs1827123254	9:101,891,196	C/T	—	uncertain significance
rs2490105752	9:101,891,198	C/T	—	likely benign
rs2490105787	9:101,891,200	G/A	—	uncertain significance
rs2118564588	9:101,891,201	C/T	—	uncertain significance
rs1588576233	9:101,891,202	T/C	—	uncertain significance
rs2118564689	9:101,891,205	G/A	—	uncertain significance
rs1827123534	9:101,891,209	C/G	—	uncertain significance
rs2490106022	9:101,891,213	C/G	—	likely benign
rs2118565026	9:101,891,215	C/T	—	uncertain significance
rs1171355842	9:101,891,219	G/C	—	uncertain significance
rs200779997	9:101,891,226	G/A	—	uncertain significance

Showing 100 of 803 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.