Varaico: Literature-Extracted Genetic Variants

Gene:GAB3
Variant:p.H197R

GAB3

41 papers

RefSeq Summary

This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, an...

Pfam Domains

PHaa 6–117UCSCPH domain

Gene Aliases

HGNC Name

GRB2 associated binding protein 3

HGNC Alias Names

DOS/Gab family member 3; Gab3 scaffolding protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001081573.3
p.H197R
c.590A>G
Surrounding Variants
1 paper
NM_001081573.3
p.E170Q
c.508G>C
1 paper
NM_001081573.3
p.D205V
c.614A>T
1 paper
NM_001081573.3
p.P238S
c.712C>T
1 paper
NM_001081573.3
p.S260N
c.779G>A
1 paper
NM_001081573.3
p.R311C
c.931C>T
1 paper
NM_001081573.3
p.S316G
c.946A>G
1 paper
NM_001081573.3
p.L318Q
c.953T>A
1 paper
NM_001081573.3
p.S319C
c.956C>G
1 paper
NM_001081573.3
p.R322C
c.964C>T
1 paper
NM_001081573.3
p.R342K
c.1025G>A
1 paper
NM_001081573.3
p.M352I
c.1056G>T
1 paper
NM_001081573.3
p.M352I
c.1056G>C
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