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.D1079E

c.3237T>G

Surrounding Variants

1 paper

NM_001353694.2

p.D1079E

c.3237T>A

1 paper

NM_001353694.2

p.D1079N

c.3235G>A

1 paper

NM_001353685.2

p.L84F

c.250C>T

1 paper

NM_001353694.2

p.V1083M

c.3247G>A

1 paper

NM_001353694.2

p.Q1095R

c.3284A>G

1 paper

NM_001353694.2

p.F1098S

c.3293T>C

1 paper

NM_001353694.2

p.L1099V

c.3295C>G

1 paper

NM_001353694.2

p.R1053C

c.3157C>T

1 paper

NM_001353684.2

p.Q61L

c.182A>T

3 papers

NM_001353694.2

p.D1023V

c.3068A>T

1 paper

NM_001353694.2

p.S1020Y

c.3059C>A

2 papers

NM_001353694.2

p.R1007H

c.3020G>A