Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.L183P

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.L183P
c.548T>C
Surrounding Variants
6 papers
NM_005475.3
p.F182L
c.546C>A
6 papers
NM_005475.3
p.F182L
c.546C>G
1 paper
NM_005475.3
p.F182F
c.546C>T
1 paper
NM_005475.3
p.P184insFs
c.551_552insG
1 paper
NM_005475.3
p.L183delFs
c.547delC
1 paper
NM_005475.3
p.P184P
c.552C>G
1 paper
NM_005475.3
p.P184P
c.552C>T
8 papers
NM_005475.3
p.F182L
c.544T>C
1 paper
NM_005475.3
p.F182delFs
c.545delT
1 paper
NM_005475.3
p.W185*
c.554G>A
1 paper
NM_005475.3
p.K181_L183delFs
c.542_548del7
1 paper
NM_005475.3
p.W185*
c.555G>A
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."