Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.D88Y

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.D88Y
c.262G>T
Surrounding Variants
1 paper
NM_005475.3
p.D88N
c.262G>A
1 paper
NM_005475.3
p.G86G
c.258C>G
2 papers
NM_005475.3
p.G86C
c.256G>T
2 papers
NM_005475.3
p.R90Q
c.269G>A
1 paper
NM_005475.3
p.P85R
c.254C>G
1 paper
NM_005475.3
p.D91N
c.271G>A
1 paper
NM_005475.3
p.D91Y
c.271G>T
1 paper
NM_005475.3
p.A84A
c.252G>A
1 paper
NM_005475.3
p.A84A
c.252G>T
1 paper
NM_005475.3
p.A84V
c.251C>T
1 paper
NM_005475.3
p.A84fs
c.250_251fs
1 paper
NM_005475.3
p.R83W
c.247C>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."