Varaico: Literature-Extracted Genetic Variants

TIAM2

108 papers

RefSeq Summary

This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (G...

Pfam Domains

PHaa 507–620UCSCPH domain

Tiam_CC_Exaa 645–742UCSCT-lymphoma invasion and metastasis CC-Ex domain

PDZaa 890–972UCSCPDZ domain

RhoGEFaa 1103–1291UCSCRhoGEF domain

PH_Tiam1aa 1300–1470UCSCTiam1 second PH domain-like

Gene Aliases

HGNC Name

TIAM Rac1 associated GEF 2

HGNC Alias Symbol

STEF

Papers

RefSeq ID

Protein change

DNA change

1–12 of 143 variants

4 papers

NM_012454.4

p.R332H

c.995G>A

3 papers

NM_012454.4

p.R1101C

c.3301C>T

2 papers

NM_012454.4

p.Y141C

c.422A>G

2 papers

NM_012454.4

p.P159S

c.475C>T

2 papers

NM_012454.4

p.R412H

c.1235G>A

2 papers

NM_012454.4

p.S557S

c.1671C>A

2 papers

NM_012454.4

p.A624T

c.1870G>A

2 papers

NM_012454.4

p.A1195T

c.3583G>A

2 papers

NM_012454.4

p.G1699R

c.5095G>A

2 papers

NM_012454.4

p.G1699R

c.5095G>C

1 paper

NM_012454.4

p.G2S

c.4G>A

1 paper

NM_012454.4

p.T9I

c.26C>T