TIAM1

TIAM Rac1 associated GEF 1

Summary

This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017]

Known Variants152 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14664544021:32,492,757C/T—likely benign
rs76018750021:32,492,822G/T—pathogenic
rs208196227021:32,492,880G/T—uncertain significance
rs117153067721:32,492,882C/T—likely benign
rs37763616221:32,492,919C/T—uncertain significance
rs76134893821:32,492,940C/T—uncertain significance
rs120972595821:32,493,018G/C—uncertain significance
rs76219421:32,493,031A/G—benign
rs11153657621:32,493,056T/C—benign
rs20111611721:32,493,062G/A—uncertain significance
rs20025291121:32,493,078C/T—conflicting classifications of pathogenicity
rs54104060021:32,493,103G/A—likely benign
rs208197312121:32,493,107C/T—uncertain significance
rs14290037021:32,493,120G/A—uncertain significance
rs14877732321:32,496,820C/T—benign
rs78122675721:32,496,847G/C—uncertain significance
rs75580476221:32,496,855C/G—uncertain significance
rs77776939021:32,496,856C/T—likely benign
rs74930650521:32,496,857G/A—uncertain significance
rs19253547421:32,496,964C/T—likely benign
rs207041021:32,499,473A/G—benign
rs76927529821:32,502,534C/T—uncertain significance
rs131951341321:32,502,560G/A—pathogenic
rs214623182721:32,502,581C/T—uncertain significance
rs1698780221:32,503,214C/T—benign
rs14312373021:32,508,291C/A—likely benign
rs14176562921:32,508,318G/A—likely benign
rs75465899121:32,508,335G/T—uncertain significance
rs53708109121:32,513,634G/T—likely benign
rs76403979021:32,513,672G/A—uncertain significance
rs52959832321:32,513,685C/T—uncertain significance
rs14177559221:32,519,250G/A—likely benign
rs251662892321:32,519,276G/A—uncertain significance
rs76987287821:32,519,301C/T—likely benign
rs56231581721:32,525,089A/G—likely benign
rs14857157721:32,525,392G/C—likely benign
rs14793556321:32,526,583C/T—likely benign
rs74868988321:32,526,652C/T—likely benign
rs7548319921:32,526,668T/A—benign
rs20035663121:32,526,707T/G—uncertain significance
rs7709290821:32,526,716C/T—likely benign
rs14317360521:32,537,308A/T—uncertain significance
rs13877691821:32,537,341C/T—uncertain significance
rs78027508921:32,537,365C/T—uncertain significance
rs14622991521:32,537,366G/A—likely benign
rs75166050621:32,554,765G/A—uncertain significance
rs14167763921:32,554,781G/A—likely benign
rs132244618521:32,554,785G/A—uncertain significance
rs20084097721:32,554,789C/T—uncertain significance
rs55825745621:32,554,797C/T—uncertain significance
rs6044060421:32,554,841G/A—benign
rs14967596521:32,554,888C/G—uncertain significance
rs75747050421:32,554,918C/T—uncertain significance
rs36921940521:32,554,923C/T—uncertain significance
rs74785430521:32,554,957T/G—uncertain significance
rs14099141621:32,559,322T/C—uncertain significance
rs75391978121:32,559,356C/T—uncertain significance
rs14492688821:32,559,367C/T—uncertain significance
rs76991757021:32,559,370A/G—uncertain significance
rs208533878521:32,559,386C/T—uncertain significance
rs95031770921:32,559,395G/A—uncertain significance
rs1698793221:32,567,583C/G—benign
rs3437943421:32,569,557A/Gintron variant—
rs11308917821:32,572,237A/C——
rs727701521:32,574,105A/Tregulatory region variant—
rs77620823621:32,575,295G/A—uncertain significance
rs7670829021:32,582,026C/Tintron variant—
rs7688430521:32,582,231C/Tintron variant—
rs53980987321:32,582,386C/T—uncertain significance
rs76100414221:32,582,387G/A—uncertain significance
rs251686416921:32,582,392G/A—uncertain significance
rs75048919321:32,582,405G/A—uncertain significance
rs6173475421:32,582,413G/A—uncertain significance
rs139189002021:32,582,420C/T—uncertain significance
rs53566647421:32,582,451T/C—likely benign
rs75919548421:32,582,483A/C—uncertain significance
rs7389968821:32,582,538C/T—uncertain significance
rs77751319221:32,585,728C/G—uncertain significance
rs53127441121:32,589,885C/T—uncertain significance
rs214659592321:32,589,897T/A—uncertain significance
rs14821164421:32,589,925G/T—uncertain significance
rs76799811021:32,589,945C/T—uncertain significance
rs251689533321:32,589,964A/G—uncertain significance
rs37220770521:32,590,005C/T—uncertain significance
rs14330442621:32,595,776C/G—likely benign
rs13934694521:32,595,797G/A—likely benign
rs136661211021:32,595,801A/C—uncertain significance
rs144081797021:32,598,080C/T—uncertain significance
rs251692232121:32,598,104T/C—uncertain significance
rs14873157421:32,598,133T/C—uncertain significance
rs75065668521:32,598,205G/A—uncertain significance
rs251692298221:32,598,208G/C—uncertain significance
rs74673957021:32,598,218C/T—uncertain significance
rs14678446121:32,598,240G/A—likely benign
rs14553962721:32,617,864G/T—uncertain significance
rs251697964921:32,617,904A/G—uncertain significance
rs91398720421:32,617,943C/T—uncertain significance
rs75683447021:32,617,947C/T—uncertain significance
rs207146339921:32,617,981G/A—uncertain significance
rs18631896221:32,618,539T/Gintron variant—

Showing 100 of 152 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.