Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.I309V

GAB1

173 papers

RefSeq Summary

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth ...

Pfam Domains

PHaa 6–116UCSCPH domain

Gene Aliases

HGNC Name

GRB2 associated binding protein 1

HGNC Previous Symbol

DFNB26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002039.4
p.I309V
c.925A>G
Surrounding Variants
1 paper
NM_002039.4
p.P310S
c.928C>T
1 paper
NM_002039.4
p.Y307F
c.920A>T
5 papers
NM_002039.4
p.P311L
c.932C>T
1 paper
NM_002039.4
p.Y317F
c.950A>T
1 paper
NM_002039.4
p.Q299E
c.895C>G
1 paper
NM_002039.4
p.P320S
c.958C>T
1 paper
NM_002039.4
p.S291C
c.872C>G
1 paper
NM_002039.4
p.G282V
c.845G>T
1 paper
NM_002039.4
p.A351G
c.1052C>G
1 paper
NM_002039.4
p.H352P
c.1055A>C
1 paper
NM_002039.4
p.R354Q
c.1061G>A
1 paper
NM_002039.4
p.R263R
c.787A>C
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