Varaico: Literature-Extracted Genetic Variants

Gene:PTPN12
Variant:p.V14I

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.V14I
c.40G>A
Surrounding Variants
1 paper
NM_002835.4
p.V14insFs
c.42dupC
1 paper
NM_002835.4
p.Q15*
c.43C>T
1 paper
NM_002835.4
p.I11delFs
c.31delA
1 paper
NM_002835.4
p.D21D
c.63C>T
1 paper
NM_002835.4
p.N23T
c.68A>C
1 paper
NM_002835.4
p.N23S
c.68A>G
2 papers
NM_002835.4
p.D26A
c.77A>C
1 paper
NM_002835.4
p.D26E
c.78C>A
1 paper
NM_002835.4
p.D26E
c.78C>G
1 paper
NM_002835.4
p.M1insFs
c.2dupT
1 paper
NM_002835.4
p.M1insFs
c.1_2insTT
2 papers
NM_002835.4
p.R30Q
c.89G>A
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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."