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.S231A

c.691T>G

Surrounding Variants

1 paper

NM_001353694.2

p.P220S

c.658C>T

1 paper

NM_001353694.2

p.A218V

c.653C>T

1 paper

NM_001353694.2

p.T216M

c.647C>T

3 papers

NM_001353694.2

p.G247R

c.739G>C

3 papers

NM_001353694.2

p.G247R

c.739G>A

2 papers

NM_001353694.2

p.G247V

c.740G>T

2 papers

NM_001353694.2

p.G247delins

c.739_740delinsAT

1 paper

NM_001353694.2

p.P249R

c.746C>G

1 paper

NM_001353694.2

p.A211delFs

c.632delG

2 papers

NM_001353694.2

p.E204K

c.610G>A

1 paper

NM_001353694.2

p.G201D

c.602G>A

1 paper

NM_001353694.2

p.I264V

c.790A>G