Varaico: Literature-Extracted Genetic Variants

Gene:PDP1
Variant:p.R19K

PDP1

252 papers

RefSeq Summary

Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E...

Pfam Domains

PP2Caa 191–450UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

pyruvate dehydrogenase phosphatase catalytic subunit 1

HGNC Previous Symbol

PPM2C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018444.4
p.R19K
c.56G>A
Surrounding Variants
1 paper
NM_018444.4
p.R13H
c.38G>A
2 papers
NM_018444.4
p.R13P
c.38G>C
1 paper
NM_018444.4
p.R13L
c.38G>T
1 paper
NM_018444.4
p.R13S
c.37C>A
1 paper
NM_018444.4
p.R13G
c.37C>G
1 paper
NM_018444.4
p.R13C
c.37C>T
1 paper
NM_018444.4
p.I12T
c.35T>C
1 paper
NM_018444.4
p.H31H
c.93T>C
1 paper
NM_018444.4
p.T5T
c.15T>A
1 paper
NM_018444.4
p.A3V
c.8C>T
1 paper
NM_018444.4
p.S35_S36insFs
c.105_106insA
1 paper
NM_018444.4
p.A3T
c.7G>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."