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.A279P

c.835G>C

Surrounding Variants

1 paper

NM_012454.4

p.F290_S298delFs

c.868_893del26

1 paper

NM_012454.4

p.S266F

c.797C>T

1 paper

NM_012454.4

p.R300W

c.898C>T

1 paper

NM_012454.4

p.D251D

c.753C>T

1 paper

NM_012454.4

p.R317H

c.950G>A

1 paper

NM_012454.4

p.D320insFs

c.959_960insAT

1 paper

NM_012454.4

p.S233Y

c.698C>A

1 paper

NM_012454.4

p.T325M

c.974C>T

4 papers

NM_012454.4

p.R332H

c.995G>A

1 paper

NM_012454.4

p.S225N

c.674G>A

1 paper

NM_012454.4

p.A220A

c.660C>T

1 paper

NM_012454.4

p.L198R

c.593T>G