Varaico: Literature-Extracted Genetic Variants

Gene:SH2B2
Variant:p.E368insFs

SH2B2

116 papers

RefSeq Summary

The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in res...

Pfam Domains

Phe_ZIPaa 22–78UCSCPhenylalanine zipper
PHaa 195–306UCSCPH domain
SH2aa 417–494UCSCSH2 domain

Gene Aliases

HGNC Name

SH2B adaptor protein 2

HGNC Alias Symbol

APS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001359228.2
p.E368insFs
c.1103dupA
Surrounding Variants
1 paper
NM_001359228.2
p.L370fs
c.1108_1109fs
1 paper
NM_001359228.2
p.S360C
c.1078A>T
1 paper
NM_001359228.2
p.T356delFs
c.1066delA
1 paper
NM_001359228.2
p.V351_V354delFs
c.1053_1060del8
1 paper
NM_001359228.2
p.G387S
c.1159G>A
2 papers
NM_001359228.2
p.C323_R327delFs
c.967_979del13
1 paper
NM_001359228.2
p.R320delFs
c.958delC
1 paper
NM_001359228.2
p.E312V
c.935A>T
1 paper
NM_001359228.2
p.D309V
c.926A>T
1 paper
NM_001359228.2
p.D309N
c.925G>A
1 paper
NM_001359228.2
p.E397*
c.1189G>T
1 paper
NM_001359228.2
p.G399A
c.1196G>C
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