Varaico: Literature-Extracted Genetic Variants

Gene:GRAP2
Variant:p.Q196*

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.Q196*
c.586C>T
Surrounding Variants
1 paper
NM_004810.4
p.L195P
c.584T>C
1 paper
NM_004810.4
p.P194insFs
c.580_581insT
1 paper
NM_004810.4
p.T192_L193insG
c.574_578ins3
2 papers
NM_004810.4
p.P191L
c.572C>T
1 paper
NM_004810.4
p.Q201E
c.601C>G
1 paper
NM_004810.4
p.P191_T192delFs
c.571_574del4
1 paper
NM_004810.4
p.P190L
c.569C>T
1 paper
NM_004810.4
p.P202L
c.605C>T
2 papers
NM_004810.4
p.Q203K
c.607C>A
1 paper
NM_004810.4
p.D188G
c.563A>G
1 paper
NM_004810.4
p.D188N
c.562G>A
1 paper
NM_004810.4
p.L186R
c.557T>G
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