Varaico: Literature-Extracted Genetic Variants

Gene:GRAP2
Variant:p.T246S

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.T246S
c.736A>T
Surrounding Variants
1 paper
NM_004810.4
p.T246S
c.737C>G
1 paper
NM_004810.4
p.T246_G247insFs
c.738_739insTG
1 paper
NM_004810.4
p.G245D
c.734G>A
1 paper
NM_004810.4
p.G245V
c.734G>T
4 papers
NM_004810.4
p.G245S
c.733G>A
1 paper
NM_004810.4
p.L248W
c.743T>G
1 paper
NM_004810.4
p.D241A
c.722A>C
1 paper
NM_004810.4
p.N240S
c.719A>G
2 papers
NM_004810.4
p.I239M
c.717A>G
1 paper
NM_004810.4
p.A255_L256delFs
c.765_768del4
1 paper
NM_004810.4
p.A255A
c.765C>G
1 paper
NM_004810.4
p.S236N
c.707G>A
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