Varaico: Literature-Extracted Genetic Variants

Gene:GAB2
Variant:p.Y249C

GAB2

154 papers

RefSeq Summary

This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The...

Pfam Domains

PHaa 7–117UCSCPH domain
PHaa 7–117UCSCPH domain

Gene Aliases

HGNC Name

GRB2 associated binding protein 2

HGNC Alias Symbol

KIAA0571

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_080491.3
p.Y249C
c.746A>G
Surrounding Variants
2 papers
NM_080491.3
p.Q244H
c.732A>T
2 papers
NM_080491.3
p.Q244H
c.732A>C
1 paper
NM_080491.3
p.Q244R
c.731A>G
1 paper
NM_080491.3
p.R256W
c.766C>T
1 paper
NM_080491.3
p.D267Y
c.799G>T
1 paper
NM_080491.3
p.L268L
c.804C>T
1 paper
NM_080491.3
p.T225S
c.673A>T
1 paper
NM_080491.3
p.M221T
c.662T>C
1 paper
NM_080491.3
p.L282F
c.844C>T
1 paper
NM_080491.3
p.E286K
c.856G>A
1 paper
NM_080491.3
p.R207Splc
c.621-3T>G
2 papers
NM_080491.3
p.T297M
c.890C>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."