Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.D485delFs

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.D485delFs
c.1454delA
Surrounding Variants
1 paper
NM_005475.3
p.D485fs
c.1453_1454fs
2 papers
NM_005475.3
p.D485G
c.1454A>G
1 paper
NM_005475.3
p.D485_W492delFs
c.1454_1475del22
1 paper
NM_005475.3
p.W484_E487del4
c.1450_1460del12
1 paper
NM_005475.3
p.E487del1
c.1459_1460delGAG
1 paper
NM_005475.3
p.H483Y
c.1447C>T
2 papers
NM_005475.3
p.E487K
c.1459G>A
1 paper
NM_005475.3
p.L489delFs
c.1465delC
3 papers
NM_005475.3
p.S488Y
c.1463C>A
1 paper
NM_005475.3
p.S488F
c.1463C>T
1 paper
NM_005475.3
p.S488S
c.1464C>G
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."