Varaico: Literature-Extracted Genetic Variants

TIAM1

177 papers

RefSeq 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 conf...

Pfam Domains

PHaa 441–547UCSCPH domain

Tiam_CC_Exaa 572–669UCSCT-lymphoma invasion and metastasis CC-Ex domain

RBDaa 766–841UCSCRaf-like Ras-binding domain

PDZaa 845–925UCSCPDZ domain

RhoGEFaa 1044–1232UCSCRhoGEF domain

PH_Tiam1aa 1241–1410UCSCTiam1 second PH domain-like

Gene Aliases

HGNC Name

TIAM Rac1 associated GEF 1

HGNC Previous Name

T-cell lymphoma invasion and metastasis 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001353694.2

p.F165V

c.493T>G

Surrounding Variants

1 paper

NM_001353694.2

p.S164C

c.490A>T

2 papers

NM_001353694.2

p.A163V

c.488C>T

1 paper

NM_001353694.2

p.E161E

c.483G>A

1 paper

NM_001353694.2

p.S170F

c.509C>T

1 paper

NM_001353694.2

p.S172A

c.514T>G

1 paper

NM_001353694.2

p.S172F

c.515C>T

1 paper

NM_001353694.2

p.Y152*

c.456T>G

1 paper

NM_001353694.2

p.Y152*

c.456T>A

1 paper

NM_001353694.2

p.E178*

c.532G>T

1 paper

NM_001353694.2

p.S186F

c.557C>T

1 paper

NM_001353694.2

p.T140T

c.420A>C

2 papers

NM_001353694.2

p.A139T

c.415G>A