Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.E206Q

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.E206Q
c.616G>C
Surrounding Variants
4 papers
NM_000284.4
p.E206K
c.616G>A
NM_001173456.2
p.E175K
c.523G>A
1 paper
NM_000284.4
p.E206*
c.616G>T
27 papers
NM_000284.4
p.F205L
c.615C>A
27 papers
NM_000284.4
p.F205L
c.615C>G
1 paper
NM_000284.4
p.A207P
c.619G>C
3 papers
NM_000284.4
p.A207delFs
c.620delC
27 papers
NM_000284.4
p.F205L
c.613T>C
1 paper
NM_000284.4
p.Y208*
c.624C>G
2 papers
NM_000284.4
p.N209S
c.626A>G
1 paper
NM_000284.4
p.G202_Q203delFs
c.606_607delCC
1 paper
NM_000284.4
p.M210L
c.628A>C
8 papers
NM_000284.4
p.M210V
c.628A>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."