Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.Q97_E98Splc

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.Q97_E98Splc
c.291+5G>A
Surrounding Variants
2 papers
NM_000284.4
p.Q97Q
c.291G>A
1 paper
NM_000284.4
p.D95N
c.283G>A
1 paper
NM_000284.4
p.D95delFs
c.283delG
1 paper
NM_000284.4
p.D95_G96delFs
c.284_287del4
1 paper
NM_000284.4
p.L93delFs
c.277delT
1 paper
NM_000284.4
p.C91S
c.272G>C
1 paper
NM_000284.4
p.C91S
c.271T>A
1 paper
NM_000284.4
p.F90S
c.269T>C
14 papers
NM_000284.4
p.G89S
c.265G>A
1 paper
NM_000284.4
p.G89R
c.265G>C
1 paper
NM_000284.4
p.R88H
c.263G>A
15 papers
NM_000284.4
p.R88S
c.262C>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."