Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.L252V

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.L252V
c.754C>G
Surrounding Variants
1 paper
NM_000284.4
p.G251G
c.753G>A
1 paper
NM_000284.4
p.R253_V254ins15
c.757_761ins45
5 papers
NM_000284.4
p.R253G
c.757A>G
1 paper
NM_000284.4
p.G251W
c.751G>T
3 papers
NM_000284.4
p.P250L
c.749C>T
4 papers
NM_000284.4
p.P250T
c.748C>A
1 paper
NM_000284.4
p.R253_V254Splc
c.759+5G>T
1 paper
NM_000284.4
p.D247fs
c.739_740fs
4 papers
NM_000284.4
p.G246G
c.738C>T
1 paper
NM_000284.4
p.G246_R253delFs
c.738_759del22
1 paper
NM_000284.4
p.R245S
c.735A>C
1 paper
NM_000284.4
p.R245S
c.735A>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."