Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.P639S

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.P639S
c.1915C>T
Surrounding Variants
1 paper
NM_002039.4
p.K642R
c.1925A>G
5 papers
NM_002039.4
p.Y627F
c.1880A>T
1 paper
NM_002039.4
p.Q624L
c.1871A>T
1 paper
NM_002039.4
p.S614R
c.1842C>A
1 paper
NM_002039.4
p.S614R
c.1842C>G
1 paper
NM_002039.4
p.S614R
c.1840A>C
1 paper
NM_002039.4
p.Q643H
c.1929A>C
1 paper
NM_002039.4
p.Q643H
c.1929A>T
1 paper
NM_002039.4
p.K644E
c.1930A>G
1 paper
NM_002039.4
p.K644M
c.1931A>T
1 paper
NM_002039.4
p.S645I
c.1934G>T
1 paper
NM_002039.4
p.S650R
c.1948A>C
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."