Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.P193L

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.P193L
c.578C>T
Surrounding Variants
1 paper
NM_005475.3
p.P193P
c.579C>T
2 papers
NM_005475.3
p.P193_E194del2
c.577_581del6
1 paper
NM_005475.3
p.E194K
c.580G>A
1 paper
NM_005475.3
p.E194*
c.580G>T
1 paper
NM_005475.3
p.A195S
c.583G>T
1 paper
NM_005475.3
p.A195V
c.584C>T
1 paper
NM_005475.3
p.A195A
c.585G>T
1 paper
NM_005475.3
p.L196M
c.586C>A
1 paper
NM_005475.3
p.L196L
c.586C>T
1 paper
NM_005475.3
p.R189Q
c.566G>A
1 paper
NM_005475.3
p.R189G
c.565C>G
1 paper
NM_005475.3
p.E190delFs
c.568delG
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