Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.G231V

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.G231V
c.692G>T
Surrounding Variants
1 paper
NM_002039.4
p.N233I
c.698A>T
1 paper
NM_002039.4
p.S228C
c.682A>T
1 paper
NM_002039.4
p.S225F
c.674C>T
1 paper
NM_002039.4
p.M240T
c.719T>C
2 papers
NM_002039.4
p.R248C
c.742C>T
1 paper
NM_002039.4
p.R248H
c.743G>A
1 paper
NM_002039.4
p.Y259H
c.775T>C
1 paper
NM_002039.4
p.Y259F
c.776A>T
1 paper
NM_002039.4
p.S203A
c.607T>G
1 paper
NM_002039.4
p.P262H
c.785C>A
1 paper
NM_002039.4
p.R263R
c.787A>C
1 paper
NM_002039.4
p.G282V
c.845G>T
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