Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.E122A

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.E122A
c.365A>C
Surrounding Variants
2 papers
NM_005475.3
p.E122K
c.364G>A
1 paper
NM_005475.3
p.E123K
c.367G>A
1 paper
NM_005475.3
p.E123D
c.369G>C
1 paper
NM_005475.3
p.E123D
c.369G>T
1 paper
NM_005475.3
p.S120S
c.360C>T
1 paper
NM_005475.3
p.L124Q
c.371T>A
1 paper
NM_005475.3
p.A125A
c.375C>T
1 paper
NM_005475.3
p.P126S
c.376C>T
1 paper
NM_005475.3
p.A118V
c.353C>T
1 paper
NM_005475.3
p.P126L
c.377C>T
1 paper
NM_005475.3
p.A118T
c.352G>A
1 paper
NM_005475.3
p.R119delFs
c.355delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."