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

1 paper

NM_012454.4

p.H136L

c.407A>T

Surrounding Variants

1 paper

NM_012454.4

p.Y141S

c.422A>C

2 papers

NM_012454.4

p.Y141C

c.422A>G

1 paper

NM_012454.4

p.G142R

c.424G>A

1 paper

NM_012454.4

p.N144_E145ins12

c.430_434ins36

1 paper

NM_012454.4

p.E154K

c.460G>A

1 paper

NM_012454.4

p.D155N

c.463G>A

2 papers

NM_012454.4

p.P159S

c.475C>T

1 paper

NM_012454.4

p.P159L

c.476C>T

1 paper

NM_012454.4

p.S111S

c.333A>C

1 paper

NM_012454.4

p.G167E

c.500G>A

1 paper

NM_012454.4

p.G105S

c.313G>A

1 paper

NM_012454.4

p.A98T

c.292G>A