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

1–12 of 203 variants

4 papers

NM_001353694.2

p.R23C

c.67C>T

4 papers

NM_001353694.2

p.T109I

c.326C>T

4 papers

NM_001353694.2

p.A441G

c.1322C>G

3 papers

NM_001353694.2

p.D138V

c.413A>T

3 papers

NM_001353694.2

p.G247R

c.739G>C

3 papers

NM_001353694.2

p.G247R

c.739G>A

3 papers

NM_001353694.2

p.A429T

c.1285G>A

3 papers

NM_001353694.2

p.A439P

c.1315G>C

3 papers

NM_001353694.2

p.K912E

c.2734A>G

3 papers

NM_001353694.2

p.D1023V

c.3068A>T

2 papers

NM_001353694.2

p.R31H

c.92G>A

2 papers

NM_001353694.2

p.R93Q

c.278G>A