Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.E75G

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.E75G
c.224A>G
Surrounding Variants
4 papers
NM_000284.4
p.E75A
c.224A>C
1 paper
NM_000284.4
p.E75V
c.224A>T
1 paper
NM_000284.4
p.E75D
c.225G>C
1 paper
NM_000284.4
p.E75D
c.225G>T
1 paper
NM_000284.4
p.E75delFs
c.224delA
1 paper
NM_000284.4
p.L76_K77delFs
c.227_230del4
1 paper
NM_000284.4
p.L76*
c.227T>A
1 paper
NM_000284.4
p.R73*
c.217C>T
1 paper
NM_000284.4
p.A78T
c.232G>A
19 papers
NM_000284.4
p.R72C
c.214C>T
5 papers
NM_000284.4
p.V71A
c.212T>C
1 paper
NM_000284.4
p.Q80E
c.238C>G
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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."