Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.Y161delFs

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.Y161delFs
c.483delC
Surrounding Variants
7 papers
NM_000284.4
p.Y161C
c.482A>G
1 paper
NM_000284.4
p.Y161*
c.483C>A
1 paper
NM_000284.4
p.Y161*
c.483C>G
17 papers
NM_000284.4
p.Y161Y
c.483C>T
3 papers
NM_000284.4
p.G162R
c.484G>A
2 papers
NM_000284.4
p.G162R
c.484G>C
1 paper
NM_000284.4
p.F160C
c.479T>G
1 paper
NM_000284.4
p.Y161del1
c.481_483delTAC
1 paper
NM_000284.4
p.F160Fs
c.478_479delinsAFs
1 paper
NM_000284.4
p.F160del1
c.478_479delTTC
1 paper
NM_000284.4
p.N164D
c.490A>G
11 papers
NM_000284.4
p.N164S
c.491A>G
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