Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.H8Y

PTPN11

3,412 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell gro...

Pfam Domains

SH2aa 6–81UCSCSH2 domain
SH2aa 112–197UCSCSH2 domain
Y_phosphataseaa 273–520UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 11

HGNC Previous Symbol

NS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_002834.5
p.H8Y
c.22C>T
Surrounding Variants
1 paper
NM_002834.5
p.H8N
c.22C>A
1 paper
NM_002834.5
p.H8insFs
c.23dupA
1 paper
NM_002834.5
p.H8Q
c.24C>A
1 paper
NM_002834.5
p.H8Q
c.24C>G
1 paper
NM_002834.5
p.F7Y
c.20T>A
1 paper
NM_002834.5
p.P9T
c.25C>A
1 paper
NM_002834.5
p.F7V
c.19T>G
1 paper
NM_002834.5
p.P9Q
c.26C>A
1 paper
NM_002834.5
p.P9R
c.26C>G
1 paper
NM_002834.5
p.W6*
c.18G>A
1 paper
NM_002834.5
p.W6*
c.17G>A
1 paper
NM_002834.5
p.W6L
c.17G>T
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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."