Varaico: Literature-Extracted Genetic Variants

Gene:GAB1
Variant:p.Y406*

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.Y406*
c.1218T>A
Surrounding Variants
1 paper
NM_002039.4
p.Y406*
c.1218T>G
1 paper
NM_002039.4
p.D407N
c.1219G>A
1 paper
NM_002039.4
p.P409L
c.1226C>T
1 paper
NM_002039.4
p.R410fs
c.1228_1229fs
1 paper
NM_002039.4
p.R410delFs
c.1230delA
1 paper
NM_002039.4
p.L420F
c.1258C>T
2 papers
NM_002039.4
p.Y447F
c.1340A>T
1 paper
NM_002039.4
p.V448D
c.1343T>A
1 paper
NM_002039.4
p.P456Q
c.1367C>A
3 papers
NM_002039.4
p.Y472F
c.1415A>T
1 paper
NM_002039.4
p.M475V
c.1423A>G
1 paper
NM_002039.4
p.P491S
c.1471C>T
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