Varaico: Literature-Extracted Genetic Variants

Gene:PDP2
Variant:p.E110G

PDP2

30 papers

RefSeq Summary

This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcri...

Pfam Domains

PP2Caa 207–482UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

pyruvate dehydrogenase phosphatase catalytic subunit 2

HGNC Alias Symbols

KIAA1348; PPM2C2; PPM2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020786.4
p.E110G
c.329A>G
Surrounding Variants
1 paper
NM_020786.4
p.N117S
c.350A>G
1 paper
NM_020786.4
p.K94K
c.282G>A
1 paper
NM_020786.4
p.L86F
c.256C>T
1 paper
NM_020786.4
p.V152L
c.454G>C
1 paper
NM_020786.4
p.V152L
c.454G>T
1 paper
NM_020786.4
p.S166S
c.498C>T
1 paper
NM_020786.4
p.Y27F
c.80A>T
1 paper
NM_020786.4
p.R25C
c.73C>T
1 paper
NM_020786.4
p.R210C
c.628C>T
1 paper
NM_020786.4
p.R237R
c.711A>G
1 paper
NM_020786.4
p.D239A
c.716A>C
1 paper
NM_020786.4
p.V262D
c.785T>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."