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.D424E

c.1272C>G

Surrounding Variants

1 paper

NM_001353694.2

p.D424E

c.1272C>A

3 papers

NM_001353694.2

p.A429T

c.1285G>A

1 paper

NM_001353694.2

p.S418_S419delFs

c.1254_1255delAG

1 paper

NM_001353694.2

p.G415A

c.1244G>C

1 paper

NM_001353694.2

p.G415S

c.1243G>A

1 paper

NM_001353694.2

p.S413C

c.1237A>T

1 paper

NM_001353694.2

p.Q412H

c.1236G>T

1 paper

NM_001353694.2

p.Q412H

c.1236G>C

3 papers

NM_001353694.2

p.A439P

c.1315G>C

1 paper

NM_001353694.2

p.A441T

c.1321G>A

4 papers

NM_001353694.2

p.A441G

c.1322C>G

1 paper

NM_001353694.2

p.S406L

c.1217C>T