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.L906M

c.2716C>A

Surrounding Variants

1 paper

NM_001353694.2

p.A905T

c.2713G>A

3 papers

NM_001353694.2

p.K912E

c.2734A>G

2 papers

NM_001353694.2

p.L915F

c.2743C>T

2 papers

NM_001353694.2

p.L920V

c.2758C>G

1 paper

NM_001353694.2

p.G921A

c.2762G>C

1 paper

NM_001353694.2

p.E929*

c.2785G>T

1 paper

NM_001353694.2

p.E929D

c.2787G>T

1 paper

NM_001353694.2

p.E929D

c.2787G>C

1 paper

NM_001353694.2

p.S953N

c.2858G>A

1 paper

NM_001353694.2

p.G888Splc

c.2662+64T>G

1 paper

NM_001353694.2

p.G888Splc

c.2662+17G>A

1 paper

NM_001353694.2

p.S885P

c.2653T>C