Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.C472_N473insFs

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.C472_N473insFs
c.1416_1417insC
Surrounding Variants
1 paper
NM_005475.3
p.C472R
c.1414T>C
1 paper
NM_005475.3
p.N473fs
c.1417_1418fs
6 papers
NM_005475.3
p.T474M
c.1421C>T
2 papers
NM_005475.3
p.G470Splc
c.1409-2A>G
5 papers
NM_005475.3
p.L476F
c.1426C>T
1 paper
NM_005475.3
p.F477_F479insFs
c.1430_1436dup7
1 paper
NM_005475.3
p.F477delFs
c.1430delT
1 paper
NM_005475.3
p.P478S
c.1432C>T
1 paper
NM_005475.3
p.S480_H483delFs
c.1440_1447del8
10 papers
NM_005475.3
p.D485_G493del0
c.1454_1477del24
1 paper
NM_005475.3
p.S480fs
c.1438_1439fs
1 paper
NM_005475.3
p.S480S
c.1440C>T
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."