Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.A50A

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
1 paper
NM_002834.5
p.A50A
c.150T>C
Surrounding Variants
1 paper
NM_002834.5
p.A50G
c.149C>G
4 papers
NM_002834.5
p.A50V
c.149C>T
2 papers
NM_002834.5
p.V51I
c.151G>A
3 papers
NM_002834.5
p.A50T
c.148G>A
2 papers
NM_002834.5
p.V51A
c.152T>C
1 paper
NM_002834.5
p.V51G
c.152T>G
3 papers
NM_002834.5
p.T52A
c.154A>G
15 papers
NM_002834.5
p.T52S
c.154A>T
2 papers
NM_002834.5
p.G49E
c.146G>A
2 papers
NM_002834.5
p.T52N
c.155C>A
15 papers
NM_002834.5
p.T52S
c.155C>G
19 papers
NM_002834.5
p.T52I
c.155C>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."