Varaico: Literature-Extracted Genetic Variants

Gene:GRAP2
Variant:p.S88delFs

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.S88delFs
c.262delT
Surrounding Variants
1 paper
NM_004810.4
p.S88F
c.263C>T
1 paper
NM_004810.4
p.Q86Q
c.258G>A
1 paper
NM_004810.4
p.S85insFs
c.254_255insT
3 papers
NM_004810.4
p.G90A
c.269G>C
2 papers
NM_004810.4
p.A84A
c.252C>A
1 paper
NM_004810.4
p.G90G
c.270G>C
1 paper
NM_004810.4
p.A84D
c.251C>A
1 paper
NM_004810.4
p.D91N
c.271G>A
1 paper
NM_004810.4
p.D91A
c.272A>C
1 paper
NM_004810.4
p.A84delFs
c.251delC
1 paper
NM_004810.4
p.R83Q
c.248G>A
1 paper
NM_004810.4
p.R83L
c.248G>T
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