Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.N570K

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.N570K
c.1710T>A
Surrounding Variants
1 paper
NM_005475.3
p.N570K
c.1710T>G
1 paper
NM_005475.3
p.N570S
c.1709A>G
1 paper
NM_005475.3
p.Q571*
c.1711C>T
1 paper
NM_005475.3
p.Q571R
c.1712A>G
2 papers
NM_005475.3
p.N570fs
c.1708_1709fs
1 paper
NM_005475.3
p.N570insFs
c.1709dupA
1 paper
NM_005475.3
p.D569G
c.1706A>G
2 papers
NM_005475.3
p.Y572fs
c.1714_1715fs
2 papers
NM_005475.3
p.D569Y
c.1705G>T
1 paper
NM_005475.3
p.Y572Y
c.1716C>T
21 papers
NM_005475.3
p.I568T
c.1703T>C
1 paper
NM_005475.3
p.A567_N570delFs
c.1701_1708del8
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."