Varaico: Literature-Extracted Genetic Variants

Gene:PTPN12

PTPN12

120 papers

RefSeq Summary

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

Pfam Domains

Y_phosphataseaa 58–292UCSCProtein-tyrosine phosphatase

Gene Aliases

HGNC Name

protein tyrosine phosphatase non-receptor type 12

HGNC Alias Symbols

PTPG1; PTP-PEST

Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
11 papers
NM_002835.4
p.T573A
c.1717A>G
9 papers
NM_002835.4
p.C231S
c.691T>A
9 papers
NM_002835.4
p.C231S
c.692G>C
5 papers
NM_002835.4
p.S684L
c.2051C>T
4 papers
NM_002835.4
p.D199A
c.596A>C
4 papers
NM_002835.4
p.V322I
c.964G>A
4 papers
NM_002835.4
p.E706K
c.2116G>A
3 papers
NM_002835.4
p.H230Y
c.688C>T
2 papers
NM_002835.4
p.D26A
c.77A>C
2 papers
NM_002835.4
p.R30Q
c.89G>A
2 papers
NM_002835.4
p.S39A
c.115T>G
2 papers
NM_002835.4
p.K61R
c.182A>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."