Varaico: Literature-Extracted Genetic Variants

Gene:SH2B2
Variant:p.G113C

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.G113C
c.337G>T
Surrounding Variants
1 paper
NM_001359228.2
p.S105A
c.313T>G
1 paper
NM_001359228.2
p.K128Q
c.382A>C
1 paper
NM_001359228.2
p.M97I
c.291G>C
1 paper
NM_001359228.2
p.R132S
c.394C>A
1 paper
NM_001359228.2
p.S93_A94insT
c.277_281ins3
1 paper
NM_001359228.2
p.K133*
c.397A>T
1 paper
NM_001359228.2
p.K133K
c.399G>A
1 paper
NM_001359228.2
p.V92E
c.275T>A
1 paper
NM_001359228.2
p.N139_M140del1
c.416_418delACA
1 paper
NM_001359228.2
p.S141delFs
c.422_423delGC
1 paper
NM_001359228.2
p.L142_C143insFs
c.426_427insC
1 paper
NM_001359228.2
p.V145delFs
c.433delG
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