Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.G116E

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
3 papers
NM_002039.4
p.G116E
c.347G>A
Surrounding Variants
1 paper
NM_002039.4
p.C115F
c.344G>T
1 paper
NM_002039.4
p.E122D
c.366A>T
1 paper
NM_002039.4
p.R109H
c.326G>A
1 paper
NM_002039.4
p.V108I
c.322G>A
1 paper
NM_002039.4
p.A98E
c.293C>A
1 paper
NM_002039.4
p.I90V
c.268A>G
1 paper
NM_002039.4
p.N88D
c.262A>G
1 paper
NM_002039.4
p.I87T
c.260T>C
4 papers
NM_002039.4
p.Y83C
c.248A>G
1 paper
NM_002039.4
p.E80K
c.238G>A
1 paper
NM_002039.4
p.E78*
c.232G>T
1 paper
NM_002039.4
p.K77insFs
c.231dupA
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