TGFB1

transforming growth factor beta 1

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]

Known Variants319 total

rsidPosition (GRCh37)AllelesClassClinVar
rs251337174819:41,836,970C/G—uncertain significance
rs133638762819:41,836,971A/G—likely pathogenic
rs251337175519:41,836,972G/C—likely benign
rs20170096719:41,836,976C/T—uncertain significance
rs98111978319:41,836,977G/C—uncertain significance
rs76895902519:41,836,981G/A—likely benign
rs212307746019:41,836,983T/A—uncertain significance
rs203792403119:41,836,985A/G—uncertain significance
rs78156600919:41,836,988T/C—uncertain significance
rs212307749619:41,836,989T/G—uncertain significance
rs144744309719:41,836,993C/T—likely benign
rs115855095219:41,836,995G/A—likely benign
rs145428439119:41,836,999C/T—likely benign
rs251337183219:41,837,001C/T—uncertain significance
rs125476606119:41,837,022C/G—uncertain significance
rs37051773219:41,837,026G/A—likely benign
rs125999037819:41,837,031C/G—uncertain significance
rs147783948919:41,837,032G/T—likely benign
rs86673866019:41,837,034T/C—uncertain significance
rs75896613419:41,837,042G/C—uncertain significance
rs104690632819:41,837,051G/A—uncertain significance
rs203792556219:41,837,056C/T—likely benign
rs37391072619:41,837,068C/T—likely benign
rs203792577519:41,837,070G/A—uncertain significance
rs36805427819:41,837,083G/T—likely benign
rs212307787919:41,837,099T/G—uncertain significance
rs104047387119:41,837,101G/A—likely benign
rs98052431119:41,837,109C/T—uncertain significance
rs251337205819:41,837,114A/T—uncertain significance
rs37226977119:41,837,122G/C—likely benign
rs19998205919:41,837,123C/T—benign
rs203792679119:41,837,127G/A—likely benign
rs1146635919:41,837,615G/C——
rs74785719:41,837,747G/A—benign
rs212307996219:41,838,013G/A—likely benign
rs20055075519:41,838,016C/T—likely benign
rs125482207219:41,838,017G/A—likely benign
rs18435688619:41,838,018G/A—benign
rs37477610219:41,838,028C/T—uncertain significance
rs139317293219:41,838,029G/A—uncertain significance
rs203793914619:41,838,034T/G—uncertain significance
rs19969957419:41,838,037C/G—likely benign
rs212308006519:41,838,043T/C—uncertain significance
rs75328732519:41,838,046G/A—uncertain significance
rs251337296019:41,838,063G/A—likely benign
rs251337296519:41,838,064T/C—uncertain significance
rs20020961419:41,838,074G/C—uncertain significance
rs1146635819:41,838,075C/T—benign
rs77640623719:41,838,078G/A—likely benign
rs20136632119:41,838,090G/C—likely benign
rs117982392919:41,838,099G/C—likely benign
rs19951646119:41,838,103T/C—uncertain significance
rs75958272119:41,838,105G/A—likely benign
rs20076391219:41,838,108C/A—uncertain significance
rs159988242319:41,838,110C/T—uncertain significance
rs76768542919:41,838,111G/A—likely benign
rs212308034319:41,838,113G/A—uncertain significance
rs251337304019:41,838,116T/C—uncertain significance
rs36918275119:41,838,121T/C—uncertain significance
rs7248042919:41,838,129G/A—conflicting classifications of pathogenicity
rs77586157319:41,838,139C/T—uncertain significance
rs203794131119:41,838,146C/G—uncertain significance
rs20163514719:41,838,148A/G—uncertain significance
rs105752174119:41,838,150G/Cstop gainedpathogenic
rs212308049719:41,838,154A/G—uncertain significance
rs20016421219:41,838,160C/T—conflicting classifications of pathogenicity
rs120454645319:41,838,161G/C—uncertain significance
rs251337317919:41,838,164C/T—uncertain significance
rs19056678919:41,838,174C/T—benign
rs76978216019:41,838,180C/T—likely benign
rs77075434319:41,838,181G/A—uncertain significance
rs118958267619:41,838,182T/C—uncertain significance
rs203794213819:41,838,184G/A—uncertain significance
rs146916626419:41,838,196G/A—likely benign
rs20083943519:41,838,203C/T—likely benign
rs131268959419:41,838,204G/C—likely benign
rs817918119:41,838,206G/Cintron variantlikely benign
rs1146634519:41,843,461T/Cintron variant—
rs227842219:41,845,758C/A——
rs811009019:41,845,872A/Gregulatory region variant—
rs1146633419:41,847,737G/A—benign
rs18808062119:41,847,770C/G—likely benign
rs143696479119:41,847,773G/A—likely benign
rs139605692819:41,847,779A/C—likely benign
rs37156320219:41,847,783C/T—uncertain significance
rs251338105719:41,847,789T/A—uncertain significance
rs77066428019:41,847,802G/C—likely benign
rs134840186819:41,847,807C/T—uncertain significance
rs102524189519:41,847,811G/T—likely benign
rs159988865019:41,847,816G/C—uncertain significance
rs20111921719:41,847,817G/C—likely benign
rs119599234119:41,847,818C/T—uncertain significance
rs127456451719:41,847,819G/A—uncertain significance
rs203805989919:41,847,824C/T—uncertain significance
rs103840015419:41,847,838A/G—likely benign
rs20194848419:41,847,840G/A—uncertain significance
rs251338116419:41,847,845G/A—uncertain significance
rs37358675919:41,847,847C/T—likely benign
rs26760550119:41,847,850C/T—likely benign
rs20055812819:41,847,856C/T—likely benign

Showing 100 of 319 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.