Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R226H

PDHA1

367 papers

RefSeq Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link...

Pfam Domains

E1_dhaa 66–362UCSCDehydrogenase E1 component

Gene Aliases

HGNC Name

pyruvate dehydrogenase E1 subunit alpha 1

HGNC Alias Symbol

E1alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000284.4
p.R226H
c.677G>A
Surrounding Variants
1 paper
NM_000284.4
p.Y227_G230del4
c.679_689del12
5 papers
NM_000284.4
p.Y227H
c.679T>C
4 papers
NM_000284.4
p.Y227C
c.680A>G
1 paper
NM_001173454.2
p.G266E
c.797G>A
1 paper
NM_000284.4
p.M229delFs
c.685_686delAT
1 paper
NM_000284.4
p.M229L
c.685A>C
1 paper
NM_000284.4
p.M229L
c.685A>T
1 paper
NM_000284.4
p.M229delins
c.685_686delinsTA
1 paper
NM_000284.4
p.M229I
c.687G>A
1 paper
NM_000284.4
p.M229I
c.687G>C
1 paper
NM_000284.4
p.M229I
c.687G>T
1 paper
NM_000284.4
p.G230R
c.688G>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."