SMAD3

SMAD family member 3

Summary

The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]

Known Variants830 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1163575315:67,356,423T/Cregulatory region variant—
rs88605137215:67,358,213C/A—uncertain significance
rs88605137315:67,358,228T/G—uncertain significance
rs88605137415:67,358,249G/A—uncertain significance
rs88605137515:67,358,253G/T—uncertain significance
rs88605137615:67,358,276C/T—uncertain significance
rs88605137715:67,358,325C/A—uncertain significance
rs88605137815:67,358,329A/C—uncertain significance
rs159588194715:67,358,354C/G—uncertain significance
rs55647015715:67,358,378C/T—likely benign
rs88605137915:67,358,393C/T—uncertain significance
rs90926739115:67,358,455C/T—uncertain significance
rs14437459215:67,358,465C/T—benign
rs3622170315:67,358,470C/T—benign
rs75479642815:67,358,475C/T—likely benign
rs106142715:67,358,478G/A—benign
rs77730369515:67,358,483C/T—uncertain significance
rs129239135315:67,358,488C/A—uncertain significance
rs149079319815:67,358,491C/G—uncertain significance
rs77045778315:67,358,492C/T—uncertain significance
rs155540509215:67,358,493A/C—pathogenic
rs250499977315:67,358,494T/C—pathogenic
rs214018868515:67,358,495G/A—pathogenic
rs100653071915:67,358,497C/A—pathogenic
rs77595595915:67,358,498G/A—likely benign
rs14902213715:67,358,501C/T—likely benign
rs195991021415:67,358,503T/C—uncertain significance
rs159588205315:67,358,504C/T—conflicting classifications of pathogenicity
rs250499979415:67,358,505C/T—likely benign
rs77698792515:67,358,507G/A—likely benign
rs86322374915:67,358,509C/T—uncertain significance
rs214018873315:67,358,515C/G—uncertain significance
rs250499982215:67,358,516T/G—likely benign
rs250499982615:67,358,517C/T—uncertain significance
rs76545493815:67,358,519C/T—likely benign
rs144248345715:67,358,520C/G—uncertain significance
rs129951758615:67,358,522G/T—conflicting classifications of pathogenicity
rs75064434815:67,358,525C/T—likely benign
rs139028913515:67,358,526G/T—uncertain significance
rs20182483915:67,358,528G/A—likely benign
rs132108061615:67,358,533G/C—uncertain significance
rs136095083415:67,358,537G/C—likely benign
rs214018879115:67,358,538C/G—uncertain significance
rs88603921015:67,358,540G/A—likely benign
rs159588209315:67,358,543C/T—likely benign
rs195991229415:67,358,548A/G—uncertain significance
rs86712691515:67,358,549G/T—uncertain significance
rs159588210315:67,358,552G/A—likely benign
rs75152630615:67,358,555C/G—likely benign
rs214018882215:67,358,556G/A—uncertain significance
rs18795279115:67,358,558G/A—likely benign
rs214018883815:67,358,559C/T—likely pathogenic
rs250499990815:67,358,560A/G—uncertain significance
rs195991268315:67,358,561G/A—likely benign
rs214018884315:67,358,563A/G—uncertain significance
rs78099522915:67,358,564C/G—uncertain significance
rs19161206115:67,358,566G/T—uncertain significance
rs75588240115:67,358,573G/A—likely benign
rs86322375015:67,358,574G/Tstop gainedpathogenic
rs214018889115:67,358,586G/T—likely pathogenic
rs145092715315:67,358,588G/C—uncertain significance
rs195991359215:67,358,591G/A—likely benign
rs214018890615:67,358,592G/A—uncertain significance
rs214018891115:67,358,593C/A—uncertain significance
rs74899025815:67,358,594G/T—likely benign
rs142074752315:67,358,598A/T—likely pathogenic
rs250499999315:67,358,601A/T—uncertain significance
rs155540510715:67,358,602G/T—uncertain significance
rs214018895415:67,358,607G/C—uncertain significance
rs159588213015:67,358,609C/G—likely benign
rs214018897515:67,358,611A/G—uncertain significance
rs250500002815:67,358,615A/G—likely benign
rs159588213715:67,358,618C/G—likely benign
rs77846247315:67,358,627G/A—likely benign
rs250500005715:67,358,629G/A—uncertain significance
rs195991444015:67,358,630G/A—likely benign
rs195991450615:67,358,637G/T—uncertain significance
rs146474011115:67,358,639C/T—likely benign
rs86322375115:67,358,640G/A—uncertain significance
rs159588215015:67,358,644T/G—uncertain significance
rs195991484815:67,358,645G/T—likely benign
rs86322376215:67,358,646G/Tstop gainedpathogenic
rs250500010015:67,358,647A/G—uncertain significance
rs214018906915:67,358,649A/G—uncertain significance
rs214018907515:67,358,652G/A—uncertain significance
rs124369231315:67,358,653C/G—uncertain significance
rs214018909015:67,358,655A/T—uncertain significance
rs195991528915:67,358,656T/G—uncertain significance
rs98203658615:67,358,657C/T—likely benign
rs214018910215:67,358,659C/G—uncertain significance
rs73088021315:67,358,661A/Cmissense variantuncertain significance
rs195991548815:67,358,662C/A—uncertain significance
rs74538761415:67,358,667A/G—uncertain significance
rs76915345815:67,358,669C/T—likely benign
rs124235878715:67,358,671T/C—conflicting classifications of pathogenicity
rs88716646715:67,358,674A/C—uncertain significance
rs195991618615:67,358,677C/T—uncertain significance
rs250500016515:67,358,678C/T—likely benign
rs250500016915:67,358,679A/G—uncertain significance
rs155540511615:67,358,681G/C—uncertain significance

Showing 100 of 830 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.