Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R261Q

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.R261Q
c.782G>A
Surrounding Variants
1 paper
NM_005475.3
p.R261L
c.782G>T
1 paper
NM_005475.3
p.R261_W262delins
c.782_784delinsAGC
2 papers
NM_005475.3
p.R261W
c.781C>T
63 papers
NM_005475.3
p.W262R
c.784T>A
NM_001291424.1
p.W60R
c.178T>A
75 papers
NM_005475.3
p.W262R
c.784T>C
NM_001291424.1
p.W60R
c.178T>C
1 paper
NM_005475.3
p.W262G
c.784T>G
4 papers
NM_005475.3
p.W262*
c.785G>A
1 paper
NM_005475.3
p.R261insFs
c.781dupC
4 papers
NM_005475.3
p.W262*
c.786G>A
1 paper
NM_005475.3
p.V260fs
c.778_779fs
1 paper
NM_005475.3
p.V260insFs
c.778dupG
2 papers
NM_005475.3
p.E259K
c.775G>A
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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."