Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.V167M

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
3 papers
NM_000284.4
p.V167M
c.499G>A
Surrounding Variants
2 papers
NM_000284.4
p.V167L
c.499G>C
2 papers
NM_000284.4
p.V167L
c.499G>T
1 paper
NM_000284.4
p.V167delFs
c.500delT
9 papers
NM_000284.4
p.I166I
c.498C>T
1 paper
NM_000284.4
p.I166S
c.497T>G
1 paper
NM_000284.4
p.G165G
c.495C>T
1 paper
NM_000284.4
p.G165A
c.494G>C
1 paper
NM_000284.4
p.G165C
c.493G>T
11 papers
NM_000284.4
p.A169V
c.506C>T
1 paper
NM_000284.4
p.Q170del1
c.508_509delCAG
11 papers
NM_000284.4
p.N164S
c.491A>G
1 paper
NM_000284.4
p.Q170insFs
c.508dupC
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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."