Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.D384V

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.D384V
c.1151A>T
Surrounding Variants
1 paper
NM_005475.3
p.D384A
c.1151A>C
1 paper
NM_005475.3
p.D384N
c.1150G>A
1 paper
NM_005475.3
p.A385P
c.1153G>C
2 papers
NM_005475.3
p.A385insFs
c.1154_1155ins5
1 paper
NM_005475.3
p.G382D
c.1145G>A
1 paper
NM_005475.3
p.G382A
c.1145G>C
1 paper
NM_005475.3
p.P383delFs
c.1148delC
1 paper
NM_005475.3
p.G382R
c.1144G>C
1 paper
NM_005475.3
p.H386H
c.1158T>C
1 paper
NM_005475.3
p.G387insFs
c.1160dupG
1 paper
NM_005475.3
p.G387R
c.1159G>A
1 paper
NM_005475.3
p.G387R
c.1159G>C
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