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.E1298D

c.3894G>T

Surrounding Variants

1 paper

NM_012454.4

p.E1298D

c.3894G>C

1 paper

NM_012454.4

p.E1292insFs

c.3874_3875insT

1 paper

NM_012454.4

p.S1288N

c.3863G>A

1 paper

NM_012454.4

p.Q1311K

c.3931C>A

1 paper

NM_012454.4

p.G1313R

c.3937G>A

1 paper

NM_012454.4

p.G1313R

c.3937G>C

1 paper

NM_012454.4

p.E1284*

c.3850G>T

1 paper

NM_012454.4

p.T1331M

c.3992C>T

1 paper

NM_012454.4

p.S1238T

c.3712T>A

1 paper

NM_012454.4

p.A1230T

c.3688G>A

1 paper

NM_012454.4

p.A1218Splc

c.3653-5T>C

1 paper

NM_012454.4

p.W1393*

c.4178G>A