Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.Y156F

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.Y156F
c.467A>T
Surrounding Variants
2 papers
NM_000284.4
p.M155I
c.465G>A
2 papers
NM_000284.4
p.M155I
c.465G>C
2 papers
NM_000284.4
p.M155I
c.465G>T
2 papers
NM_000284.4
p.M155T
c.464T>C
1 paper
NM_000284.4
p.K158E
c.472A>G
1 paper
NM_000284.4
p.H154R
c.461A>G
1 paper
NM_000284.4
p.F160del1
c.478_479delTTC
2 papers
NM_000284.4
p.M153V
c.457A>G
1 paper
NM_000284.4
p.F160Fs
c.478_479delinsAFs
2 papers
NM_000284.4
p.S152L
c.455C>T
1 paper
NM_000284.4
p.F160C
c.479T>G
1 paper
NM_000284.4
p.Y161del1
c.481_483delTAC
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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."