Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.R34P

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.R34P
c.101G>C
Surrounding Variants
1 paper
NM_002039.4
p.V32L
c.94G>C
1 paper
NM_002039.4
p.V32L
c.94G>T
1 paper
NM_002039.4
p.G40R
c.118G>A
1 paper
NM_002039.4
p.G40R
c.118G>C
2 papers
NM_002039.4
p.A25E
c.74C>A
1 paper
NM_002039.4
p.L45W
c.134T>G
1 paper
NM_002039.4
p.I59F
c.175A>T
2 papers
NM_002039.4
p.D61N
c.181G>A
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."