Varaico: Literature-Extracted Genetic Variants

Gene:GAB3

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
1–12 of 35 variants
3 papers
NM_001081573.3
p.R35*
c.103C>T
2 papers
NM_001081573.3
p.G40S
c.118G>A
1 paper
NM_001081573.3
p.L21L
c.61C>T
1 paper
NM_001081573.3
p.R27H
c.80G>A
1 paper
NM_001081573.3
p.R37H
c.110G>A
1 paper
NM_001081573.3
p.R58W
c.172C>T
1 paper
NM_001081573.3
p.R77L
c.230G>T
1 paper
NM_001081573.3
p.Q103Q
c.309A>G
1 paper
NM_001081573.3
p.E170Q
c.508G>C
1 paper
NM_001081573.3
p.H197R
c.590A>G
1 paper
NM_001081573.3
p.D205V
c.614A>T
1 paper
NM_001081573.3
p.P238S
c.712C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."