Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.D554insFs

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.D554insFs
c.1660dupG
Surrounding Variants
1 paper
NM_005475.3
p.S553L
c.1658C>T
1 paper
NM_005475.3
p.S553S
c.1659G>A
2 papers
NM_005475.3
p.R551Q
c.1652G>A
1 paper
NM_005475.3
p.R551_D552insG
c.1651_1655ins3
14 papers
NM_005475.3
p.R551W
c.1651C>T
1 paper
NM_005475.3
p.Y555Y
c.1665C>T
1 paper
NM_005475.3
p.E556K
c.1666G>A
1 paper
NM_005475.3
p.M557delFs
c.1669delA
1 paper
NM_005475.3
p.R549*
c.1645C>T
1 paper
NM_005475.3
p.D558D
c.1674C>T
1 paper
NM_005475.3
p.S559insFs
c.1677dupA
1 paper
NM_005475.3
p.S560S
c.1680C>T
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