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

Selected Variant

2 papers

NM_012454.4

p.R412H

c.1235G>A

Surrounding Variants

1 paper

NM_012454.4

p.A426A

c.1278A>G

1 paper

NM_012454.4

p.E444Q

c.1330G>C

1 paper

NM_012454.4

p.R464G

c.1390C>G

1 paper

NM_012454.4

p.R470delFs

c.1410delG

1 paper

NM_012454.4

p.S479C

c.1436C>G

1 paper

NM_012454.4

p.A483A

c.1449C>T

1 paper

NM_012454.4

p.S487G

c.1459A>G

1 paper

NM_012454.4

p.S491N

c.1472G>A

1 paper

NM_012454.4

p.D497E

c.1491T>A

1 paper

NM_012454.4

p.D497E

c.1491T>G

1 paper

NM_012454.4

p.K526delFs

c.1576delA

1 paper

NM_012454.4

p.R532_K536del5

c.1594_1607del15