Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.N271S

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
2 papers
NM_005475.3
p.N271S
c.812A>G
Surrounding Variants
1 paper
NM_005475.3
p.N271T
c.812A>C
1 paper
NM_005475.3
p.N271fs
c.811_812fs
1 paper
NM_005475.3
p.D270insFs
c.810dupC
1 paper
NM_005475.3
p.L272R
c.815T>G
1 paper
NM_005475.3
p.L272L
c.816T>G
2 papers
NM_005475.3
p.Y273fs
c.817_818fs
2 papers
NM_005475.3
p.Y273*
c.819C>A
2 papers
NM_005475.3
p.Y273*
c.819C>G
4 papers
NM_005475.3
p.T274A
c.820A>G
2 papers
NM_005475.3
p.M268I
c.804G>A
2 papers
NM_005475.3
p.M268I
c.804G>C
2 papers
NM_005475.3
p.M268I
c.804G>T
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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."