Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.I525I

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.I525I
c.1575C>A
Surrounding Variants
1 paper
NM_005475.3
p.I525_F526delFs
c.1574_1577del4
1 paper
NM_005475.3
p.H527Q
c.1581C>A
1 paper
NM_005475.3
p.H527Q
c.1581C>G
3 papers
NM_005475.3
p.E523fs
c.1567_1568fs
2 papers
NM_005475.3
p.E523fs
c.1567_1568fs
1 paper
NM_005475.3
p.P522S
c.1564C>T
1 paper
NM_005475.3
p.P521H
c.1562C>A
1 paper
NM_005475.3
p.P521fs
c.1561_1562fs
1 paper
NM_005475.3
p.P521S
c.1561C>T
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
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