Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.V391M

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.V391M
c.1171G>A
Surrounding Variants
6 papers
NM_002039.4
p.T387N
c.1160C>A
1 paper
NM_002039.4
p.T387A
c.1159A>G
1 paper
NM_002039.4
p.R384H
c.1151G>A
1 paper
NM_002039.4
p.S381L
c.1142C>T
1 paper
NM_002039.4
p.A378E
c.1133C>A
2 papers
NM_002039.4
p.T377I
c.1130C>T
2 papers
NM_002039.4
p.Y373C
c.1118A>G
1 paper
NM_002039.4
p.S371C
c.1111A>T
1 paper
NM_002039.4
p.A366T
c.1096G>A
1 paper
NM_002039.4
p.R354Q
c.1061G>A
1 paper
NM_002039.4
p.H352P
c.1055A>C
1 paper
NM_002039.4
p.A351G
c.1052C>G
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