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.G1145_S1146delFs

c.3433_3437del5

Surrounding Variants

1 paper

NM_012454.4

p.G1145fs

c.3433_3434fs

1 paper

NM_012454.4

p.S1186S

c.3558C>T

2 papers

NM_012454.4

p.A1195T

c.3583G>A

1 paper

NM_012454.4

p.A1218Splc

c.3653-5T>C

1 paper

NM_012454.4

p.A1230T

c.3688G>A

1 paper

NM_012454.4

p.S1238T

c.3712T>A

3 papers

NM_012454.4

p.R1101C

c.3301C>T

1 paper

NM_012454.4

p.D1084N

c.3250G>A

1 paper

NM_012454.4

p.E1077K

c.3229G>A

1 paper

NM_012454.4

p.G1075S

c.3223G>A

1 paper

NM_012454.4

p.D1070N

c.3208G>A

1 paper

NM_012454.4

p.E1284*

c.3850G>T