Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.L65P

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
4 papers
NM_002834.5
p.L65P
c.194T>C
Surrounding Variants
1 paper
NM_002834.5
p.L65Q
c.194T>A
1 paper
NM_002834.5
p.L65R
c.194T>G
1 paper
NM_002834.5
p.L65_Y66insFs
c.195_196insT
1 paper
NM_002834.5
p.Y66D
c.196T>G
3 papers
NM_002834.5
p.D64G
c.191A>G
1 paper
NM_002834.5
p.Y66F
c.197A>T
2 papers
NM_002834.5
p.D64N
c.190G>A
2 papers
NM_002834.5
p.G67R
c.199G>A
2 papers
NM_002834.5
p.G67R
c.199G>C
2 papers
NM_002834.5
p.Y63S
c.188A>C
200 papers
NM_002834.5
p.Y63C
c.188A>G
2 papers
NM_002834.5
p.Y63F
c.188A>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."