Varaico: Literature-Extracted Genetic Variants

Gene:GRAP2
Variant:p.Q212E

GRAP2

978 papers

RefSeq Summary

This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-re...

Pfam Domains

SH3_1aa 4–48UCSCSH3 domain
SH3_1aa 4–48UCSCSH3 domain
SH2aa 58–132UCSCSH2 domain
SH2aa 58–132UCSCSH2 domain
SH3_1aa 277–322UCSCSH3 domain

Gene Aliases

HGNC Name

GRB2 related adaptor protein 2

HGNC Alias Symbols

Grf40; GrbX; GRBLG; GADS; Mona

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004810.4
p.Q212E
c.634C>G
Surrounding Variants
1 paper
NM_004810.4
p.P211S
c.631C>T
1 paper
NM_004810.4
p.Q213*
c.637C>T
1 paper
NM_004810.4
p.P209P
c.627A>T
1 paper
NM_004810.4
p.L214P
c.641T>C
3 papers
NM_004810.4
p.P209L
c.626C>T
1 paper
NM_004810.4
p.A208A
c.624C>A
1 paper
NM_004810.4
p.A208D
c.623C>A
1 paper
NM_004810.4
p.Q216_P217insC
c.646_650ins3
1 paper
NM_004810.4
p.A208S
c.622G>T
1 paper
NM_004810.4
p.Q216R
c.647A>G
1 paper
NM_004810.4
p.Q216H
c.648G>T
1 paper
NM_004810.4
p.Y207delFs
c.620_621delAT
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