Varaico: Literature-Extracted Genetic Variants

Gene:GAB1

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
1–12 of 122 variants
6 papers
NM_002039.4
p.T387N
c.1160C>A
5 papers
NM_002039.4
p.T73I
c.218C>T
5 papers
NM_002039.4
p.P311L
c.932C>T
5 papers
NM_002039.4
p.Y627F
c.1880A>T
4 papers
NM_002039.4
p.Y83C
c.248A>G
3 papers
NM_002039.4
p.K20K
c.60G>A
3 papers
NM_002039.4
p.D61Y
c.181G>T
3 papers
NM_002039.4
p.G116E
c.347G>A
3 papers
NM_002039.4
p.Y472F
c.1415A>T
2 papers
NM_002039.4
p.A25E
c.74C>A
2 papers
NM_002039.4
p.D61N
c.181G>A
2 papers
NM_002039.4
p.R248C
c.742C>T
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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."