Varaico: Literature-Extracted Genetic Variants

Gene:GRAP2
Variant:p.Y45N

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.Y45N
c.133T>A
Surrounding Variants
1 paper
NM_004810.4
p.Y45_V46delFs
c.135_136delTG
1 paper
NM_004810.4
p.E43A
c.128A>C
2 papers
NM_004810.4
p.P47S
c.139C>T
1 paper
NM_004810.4
p.E43K
c.127G>A
1 paper
NM_004810.4
p.P47R
c.140C>G
1 paper
NM_004810.4
p.Q42_G44del0
c.125_130del6
1 paper
NM_004810.4
p.K48R
c.143A>G
1 paper
NM_004810.4
p.S41G
c.121A>G
1 paper
NM_004810.4
p.N49I
c.146A>T
1 paper
NM_004810.4
p.G40R
c.118G>A
1 paper
NM_004810.4
p.F50L
c.148T>C
1 paper
NM_004810.4
p.F50L
c.150C>A
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