Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.E513K

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.E513K
c.1537G>A
Surrounding Variants
1 paper
NM_005475.3
p.P512T
c.1534C>A
1 paper
NM_005475.3
p.S511N
c.1532G>A
1 paper
NM_005475.3
p.S511_P512ins4
c.1531_1535ins12
1 paper
NM_005475.3
p.L515_R518delins
c.1543_1552delinsAAAA
1 paper
NM_005475.3
p.L510P
c.1529T>C
1 paper
NM_005475.3
p.L510_E513delFs
c.1530_1539del10
2 papers
NM_005475.3
p.L510F
c.1528C>T
1 paper
NM_005475.3
p.P516insFs
c.1547_1548insA
1 paper
NM_005475.3
p.L510delFs
c.1528delC
1 paper
NM_005475.3
p.G517fs
c.1549_1550fs
1 paper
NM_005475.3
p.G517E
c.1550G>A
3 papers
NM_005475.3
p.R508Q
c.1523G>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."