Varaico: Literature-Extracted Genetic Variants

Gene:PTPN12
Variant:p.L251P

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
1 paper
NM_002835.4
p.L251P
c.752T>C
Surrounding Variants
1 paper
NM_002835.4
p.L251insFs
c.751dupC
1 paper
NM_002835.4
p.A233T
c.697G>A
1 paper
NM_002835.4
p.H274R
c.821A>G
1 paper
NM_002835.4
p.S275A
c.823T>G
1 paper
NM_002835.4
p.S275C
c.824C>G
1 paper
NM_002835.4
p.S275F
c.824C>T
1 paper
NM_002835.4
p.V277A
c.830T>C
2 papers
NM_002835.4
p.A289V
c.866C>T
1 paper
NM_002835.4
p.A289A
c.867T>A
1 paper
NM_002835.4
p.Q299R
c.896A>G
1 paper
NM_002835.4
p.D311_G312delFs
c.931_935del5
9 papers
NM_002835.4
p.C231S
c.692G>C
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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."