Varaico: Literature-Extracted Genetic Variants

Gene:PTPN2
Variant:p.N250K

PTPN2

141 papers

RefSeq Summary

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic ...

Pfam Domains

Y_phosphataseaa 42–274UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 2

HGNC Previous Symbol

PTPT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002828.4
p.N250K
c.750C>A
Surrounding Variants
2 papers
NM_002828.4
p.N250K
c.750C>G
2 papers
NM_002828.4
p.L249M
c.745C>A
1 paper
NM_002828.4
p.V247_L248delFs
c.739_743del5
1 paper
NM_002828.4
p.Y254H
c.760T>C
1 paper
NM_002828.4
p.N243K
c.729C>G
1 paper
NM_002828.4
p.N243K
c.729C>A
1 paper
NM_001207013.2
p.D264V
c.791A>T
1 paper
NM_002828.4
p.D240Y
c.718G>T
1 paper
NM_002828.4
p.G239*
c.715G>T
1 paper
NM_002828.4
p.Q264*
c.790C>T
1 paper
NM_002828.4
p.Q264L
c.791A>T
1 paper
NM_002828.4
p.S268*
c.803C>G
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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."