Varaico: Literature-Extracted Genetic Variants

Gene:PTPN12
Variant:p.H230Y

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
Selected Variant
3 papers
NM_002835.4
p.H230Y
c.688C>T
Surrounding Variants
9 papers
NM_002835.4
p.C231S
c.691T>A
9 papers
NM_002835.4
p.C231S
c.692G>C
1 paper
NM_002835.4
p.P226R
c.677C>G
1 paper
NM_002835.4
p.K218E
c.652A>G
1 paper
NM_002835.4
p.I209V
c.625A>G
1 paper
NM_002835.4
p.P203S
c.607C>T
4 papers
NM_002835.4
p.D199A
c.596A>C
1 paper
NM_002835.4
p.F192I
c.574T>A
1 paper
NM_002835.4
p.Q183L
c.548A>T
1 paper
NM_002835.4
p.I175L
c.523A>C
1 paper
NM_002835.4
p.I175V
c.523A>G
1 paper
NM_002835.4
p.I175F
c.523A>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."