Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1

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
1–12 of 623 variants
40 papers
NM_000284.4
p.R263G
c.787C>G
38 papers
NM_000284.4
p.R302C
c.904C>T
27 papers
NM_000284.4
p.F205L
c.613T>C
27 papers
NM_000284.4
p.F205L
c.615C>A
27 papers
NM_000284.4
p.F205L
c.615C>G
23 papers
NM_000284.4
p.R378H
c.1133G>A
21 papers
NM_000284.4
p.R378C
c.1132C>T
19 papers
NM_000284.4
p.R72C
c.214C>T
17 papers
NM_000284.4
p.Y161Y
c.483C>T
17 papers
NM_000284.4
p.L216F
c.648A>C
17 papers
NM_000284.4
p.R302H
c.905G>A
16 papers
NM_000284.4
p.L216F
c.648A>T
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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."