Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R245G

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
3 papers
NM_000284.4
p.R245G
c.733A>G
Surrounding Variants
1 paper
NM_000284.4
p.R245T
c.734G>C
1 paper
NM_000284.4
p.R245S
c.735A>C
1 paper
NM_000284.4
p.K244R
c.731A>G
1 paper
NM_000284.4
p.R245S
c.735A>T
4 papers
NM_000284.4
p.Y243*
c.729C>A
3 papers
NM_000284.4
p.Y243*
c.729C>G
1 paper
NM_000284.4
p.K244delFs
c.730_731delAA
1 paper
NM_000284.4
p.G246_R253delFs
c.738_759del22
6 papers
NM_000284.4
p.Y243S
c.728A>C
2 papers
NM_000284.4
p.Y243C
c.728A>G
4 papers
NM_000284.4
p.G246G
c.738C>T
1 paper
NM_000284.4
p.D247fs
c.739_740fs
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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."