Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.D61N

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
2 papers
NM_002039.4
p.D61N
c.181G>A
Surrounding Variants
1 paper
NM_002039.4
p.D61H
c.181G>C
3 papers
NM_002039.4
p.D61Y
c.181G>T
1 paper
NM_002039.4
p.D61A
c.182A>C
1 paper
NM_002039.4
p.D61V
c.182A>T
1 paper
NM_002039.4
p.L62I
c.184T>A
1 paper
NM_002039.4
p.L62V
c.184T>G
1 paper
NM_002039.4
p.I59F
c.175A>T
1 paper
NM_002039.4
p.N63S
c.188A>G
1 paper
NM_002039.4
p.T73K
c.218C>A
5 papers
NM_002039.4
p.T73I
c.218C>T
1 paper
NM_002039.4
p.K77insFs
c.231dupA
1 paper
NM_002039.4
p.L45W
c.134T>G
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