Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.F220S

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.F220S
c.659T>C
Surrounding Variants
1 paper
NM_001173456.2
p.I190I
c.570C>T
1 paper
NM_000284.4
p.C222_E223delFs
c.666_667delTG
2 papers
NM_000284.4
p.C218Y
c.653G>A
1 paper
NM_000284.4
p.C222*
c.666T>A
3 papers
NM_000284.4
p.P217R
c.650C>G
9 papers
NM_000284.4
p.P217L
c.650C>T
1 paper
NM_000284.4
p.P217T
c.649C>A
4 papers
NM_000284.4
p.P217A
c.649C>G
1 paper
NM_000284.4
p.P217insFs
c.649dupC
17 papers
NM_000284.4
p.L216F
c.648A>C
1 paper
NM_001173456.2
p.L185L
c.555A>G
16 papers
NM_000284.4
p.L216F
c.648A>T
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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."