Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.S520L

SH2B3

633 papers

RefSeq Summary

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative ...

Pfam Domains

Phe_ZIPaa 25–80UCSCPhenylalanine zipper
SH2aa 364–441UCSCSH2 domain

Gene Aliases

HGNC Name

SH2B adaptor protein 3

HGNC Alias Symbols

LNK; IDDM20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005475.3
p.S520L
c.1559C>T
Surrounding Variants
1 paper
NM_005475.3
p.S520*
c.1559C>A
1 paper
NM_005475.3
p.S520*
c.1559C>G
5 papers
NM_005475.3
p.P522insFs
c.1566dupC
1 paper
NM_005475.3
p.S520S
c.1560A>C
1 paper
NM_005475.3
p.P522delFs
c.1566delC
1 paper
NM_005475.3
p.P521fs
c.1561_1562fs
1 paper
NM_005475.3
p.P521S
c.1561C>T
1 paper
NM_005475.3
p.P521H
c.1562C>A
1 paper
NM_005475.3
p.S520_P530insFs
c.1559_1590dup32
1 paper
NM_005475.3
p.P522S
c.1564C>T
2 papers
NM_005475.3
p.R518Q
c.1553G>A
1 paper
NM_005475.3
p.R518fs
c.1552_1553fs
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