Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.W214C

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
2 papers
NM_000284.4
p.W214C
c.642G>C
Surrounding Variants
4 papers
NM_000284.4
p.W214C
c.642G>T
1 paper
NM_000284.4
p.K215Q
c.643A>C
1 paper
NM_000284.4
p.K215_P217delFs
c.644_651del8
1 paper
NM_000284.4
p.W214insFs
c.641_642insC
1 paper
NM_000284.4
p.K215R
c.644A>G
3 papers
NM_000284.4
p.W214R
c.640T>A
4 papers
NM_000284.4
p.W214R
c.640T>C
2 papers
NM_000284.4
p.W214G
c.640T>G
1 paper
NM_000284.4
p.L213S
c.638T>C
4 papers
NM_000284.4
p.L216S
c.647T>C
1 paper
NM_000284.4
p.P217insFs
c.649dupC
17 papers
NM_000284.4
p.L216F
c.648A>C
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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."