Varaico: Literature-Extracted Genetic Variants

Gene:GRAP2
Variant:p.H225Y

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.H225Y
c.673C>T
Surrounding Variants
1 paper
NM_004810.4
p.H226delFs
c.676delC
1 paper
NM_004810.4
p.Q224P
c.671A>C
1 paper
NM_004810.4
p.L223L
c.667C>T
1 paper
NM_004810.4
p.H227Y
c.679C>T
1 paper
NM_004810.4
p.H227Q
c.681T>G
1 paper
NM_004810.4
p.F228I
c.682T>A
1 paper
NM_004810.4
p.F228F
c.684C>T
1 paper
NM_004810.4
p.H229P
c.686A>C
1 paper
NM_004810.4
p.Q220R
c.659A>G
1 paper
NM_004810.4
p.Q230_E231insFs
c.690_691insC
1 paper
NM_004810.4
p.Q216H
c.648G>T
1 paper
NM_004810.4
p.Q216R
c.647A>G
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