Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.S480S

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.S480S
c.1440C>T
Surrounding Variants
1 paper
NM_005475.3
p.S480fs
c.1438_1439fs
10 papers
NM_005475.3
p.D485_G493del0
c.1454_1477del24
1 paper
NM_005475.3
p.S480_H483delFs
c.1440_1447del8
1 paper
NM_005475.3
p.H483Y
c.1447C>T
1 paper
NM_005475.3
p.P478S
c.1432C>T
1 paper
NM_005475.3
p.W484_E487del4
c.1450_1460del12
1 paper
NM_005475.3
p.F477_F479insFs
c.1430_1436dup7
1 paper
NM_005475.3
p.F477delFs
c.1430delT
1 paper
NM_005475.3
p.D485_W492delFs
c.1454_1475del22
1 paper
NM_005475.3
p.D485delFs
c.1454delA
1 paper
NM_005475.3
p.D485fs
c.1453_1454fs
2 papers
NM_005475.3
p.D485G
c.1454A>G
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