LTBP1

latent transforming growth factor beta binding protein 1

Summary

The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants169 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs912123891	2:33,172,443	G/T	—	uncertain significance
rs1044038808	2:33,172,479	T/C	—	uncertain significance
rs999898146	2:33,172,492	C/A	—	uncertain significance
rs1048738052	2:33,172,520	G/T	—	uncertain significance
rs1676356928	2:33,172,555	A/G	—	uncertain significance
rs1036967060	2:33,172,570	C/A	—	uncertain significance
rs1676364041	2:33,172,594	C/T	—	uncertain significance
rs959419457	2:33,172,596	G/C	—	uncertain significance
rs1438304858	2:33,172,645	G/T	—	uncertain significance
rs544553665	2:33,172,659	C/T	—	uncertain significance
rs985929702	2:33,172,666	G/A	—	uncertain significance
rs2148156761	2:33,172,731	C/T	—	uncertain significance
rs202228164	2:33,172,748	C/A	—	uncertain significance
rs753379089	2:33,172,753	A/G	—	uncertain significance
rs780539754	2:33,172,776	G/C	—	uncertain significance
rs1468939902	2:33,172,777	C/T	—	uncertain significance
rs749331550	2:33,172,803	G/C	—	uncertain significance
rs571184242	2:33,172,854	C/A	—	uncertain significance
rs1453602920	2:33,172,863	C/T	—	uncertain significance
rs764343043	2:33,173,947	A/G	—	uncertain significance
rs567619903	2:33,245,988	C/T	—	uncertain significance
rs766692344	2:33,245,993	T/C	—	uncertain significance
rs1210722843	2:33,246,028	C/G	—	likely benign
rs2467701423	2:33,246,072	T/C	—	likely benign
rs771640146	2:33,246,086	A/G	—	uncertain significance
rs377541507	2:33,246,090	C/T	—	uncertain significance
rs113206027	2:33,246,122	G/A	—	uncertain significance
rs1325550981	2:33,246,132	C/T	—	uncertain significance
rs975296068	2:33,246,162	A/G	—	uncertain significance
rs749599370	2:33,246,179	G/A	—	uncertain significance
rs148206651	2:33,246,234	C/T	—	uncertain significance
rs150914274	2:33,246,246	T/G	—	uncertain significance
rs547112033	2:33,298,355	T/G	—	—
rs542631	2:33,301,947	T/G	intron variant	—
rs12712337	2:33,315,230	C/T	intron variant	—
rs219122	2:33,317,264	G/C	—	—
rs772454136	2:33,335,645	C/T	—	likely benign
rs2080346588	2:33,335,657	C/T	—	uncertain significance
rs769796973	2:33,335,729	C/T	—	uncertain significance
rs766289918	2:33,335,762	C/G	—	uncertain significance
rs374136266	2:33,335,804	C/T	—	uncertain significance
rs115781177	2:33,348,494	A/C	—	—
rs376039063	2:33,359,944	G/A	—	uncertain significance
rs754291598	2:33,360,013	C/T	—	uncertain significance
rs1545552	2:33,360,338	A/C	—	—
rs6714546	2:33,361,425	A/G	regulatory region variant	—
rs9678810	2:33,398,399	G/A	—	—
rs115677875	2:33,402,403	C/G	intron variant	—
rs1441358067	2:33,412,063	C/T	—	likely pathogenic
rs1006861565	2:33,412,112	T/G	—	uncertain significance
rs12104955	2:33,413,303	C/T	intron variant	—
rs6712473	2:33,413,640	G/T	—	benign
rs202164294	2:33,413,653	C/G	—	uncertain significance
rs371064393	2:33,413,688	C/G	—	uncertain significance
rs750286953	2:33,413,709	C/T	—	uncertain significance
rs781131773	2:33,413,839	A/G	—	uncertain significance
rs370365118	2:33,413,868	G/A	—	uncertain significance
rs61751739	2:33,413,908	T/C	—	benign
rs7581446	2:33,423,801	C/G	—	—
rs4671010	2:33,432,858	A/C	intron variant	—
rs2061027	2:33,434,336	A/G	intron variant	—
rs2473898619	2:33,442,680	C/T	—	uncertain significance
rs1210350970	2:33,447,168	T/C	—	uncertain significance
rs267599358	2:33,447,195	G/A	—	uncertain significance
rs7581258	2:33,453,763	C/T	intron variant	—
rs759468146	2:33,468,783	C/T	—	uncertain significance
rs150456293	2:33,468,819	T/A	—	uncertain significance
rs3769528	2:33,471,192	A/G	intron variant	—
rs757007022	2:33,477,762	C/T	—	uncertain significance
rs189389247	2:33,477,800	G/A	—	uncertain significance
rs1201633629	2:33,477,833	C/G	—	uncertain significance
rs542466767	2:33,477,903	C/G	—	uncertain significance
rs766464179	2:33,482,405	A/G	—	uncertain significance
rs752885574	2:33,482,429	A/G	—	uncertain significance
rs80163321	2:33,482,431	G/A	—	benign
rs144207957	2:33,482,520	G/A	—	likely benign
rs376550451	2:33,482,567	C/T	—	uncertain significance
rs61754245	2:33,484,666	C/A	—	uncertain significance
rs149319598	2:33,484,669	C/T	—	likely benign
rs59246149	2:33,487,649	T/C	—	—
rs144637714	2:33,487,795	C/G	—	uncertain significance
rs746463228	2:33,487,801	T/A	—	uncertain significance
rs372778834	2:33,487,823	T/C	—	uncertain significance
rs199682211	2:33,487,827	G/T	—	uncertain significance
rs142857073	2:33,487,861	A/G	—	benign
rs77938757	2:33,487,873	C/A	—	likely benign
rs113728018	2:33,488,357	A/G	—	benign
rs143807474	2:33,488,405	C/T	—	uncertain significance
rs963025	2:33,490,160	C/T	intron variant	—
rs75654346	2:33,500,039	T/C	—	benign
rs748685270	2:33,500,049	C/G	—	uncertain significance
rs774681859	2:33,500,076	C/T	—	uncertain significance
rs368736095	2:33,500,077	G/A	—	uncertain significance
rs2476537856	2:33,500,089	C/G	—	uncertain significance
rs572890688	2:33,500,091	G/A	—	uncertain significance
rs1315914529	2:33,500,116	C/T	—	uncertain significance
rs2476539088	2:33,500,127	A/G	—	uncertain significance
rs61754246	2:33,500,863	C/T	—	benign
rs566145239	2:33,500,871	T/C	—	uncertain significance
rs570103846	2:33,500,894	G/A	—	uncertain significance

Showing 100 of 169 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.