Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.S650R

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.S650R
c.1948A>C
Surrounding Variants
2 papers
NM_002039.4
p.S650G
c.1948A>G
1 paper
NM_002039.4
p.D654V
c.1961A>T
1 paper
NM_002039.4
p.S645I
c.1934G>T
1 paper
NM_002039.4
p.K644M
c.1931A>T
1 paper
NM_002039.4
p.K644E
c.1930A>G
1 paper
NM_002039.4
p.R656*
c.1966A>T
1 paper
NM_002039.4
p.Q643H
c.1929A>C
1 paper
NM_002039.4
p.Q643H
c.1929A>T
2 papers
NM_002039.4
p.Y659F
c.1976A>T
1 paper
NM_002039.4
p.Q665R
c.1994A>G
1 paper
NM_002039.4
p.D679N
c.2035G>A
1 paper
NM_002039.4
p.T688S
c.2062A>T
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