Varaico: Literature-Extracted Genetic Variants

Gene:SH2B2
Variant:p.S413insFs

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.S413insFs
c.1237_1238ins4
Surrounding Variants
1 paper
NM_001359228.2
p.E411insFs
c.1232_1233ins40
1 paper
NM_001359228.2
p.E411fs
c.1231_1232fs
1 paper
NM_001359228.2
p.P416_F418del3
c.1246_1253del9
1 paper
NM_001359228.2
p.L422_S423del2
c.1264_1268del6
1 paper
NM_001359228.2
p.K426_A427insC
c.1276_1280ins3
1 paper
NM_001359228.2
p.G399A
c.1196G>C
1 paper
NM_001359228.2
p.A428V
c.1283C>T
1 paper
NM_001359228.2
p.E397*
c.1189G>T
1 paper
NM_001359228.2
p.P436_R437insCT
c.1306_1310ins6
1 paper
NM_001359228.2
p.H439_G440insTGG
c.1315_1319ins9
1 paper
NM_001359228.2
p.F442L
c.1324T>C
1 paper
NM_001359228.2
p.R445S
c.1333C>A
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