Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.Q351fs

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.Q351fs
c.1051_1052fs
Surrounding Variants
1 paper
NM_000284.4
p.Q351*
c.1051C>T
1 paper
NM_000284.4
p.Q351P
c.1052A>C
1 paper
NM_000284.4
p.F352_A353delFs
c.1054_1057del4
1 paper
NM_000284.4
p.A350P
c.1048G>C
1 paper
NM_000284.4
p.A350insFs
c.1049dupC
1 paper
NM_000284.4
p.A349insFs
c.1046_1047ins4
1 paper
NM_000284.4
p.A349V
c.1046C>T
1 paper
NM_000284.4
p.A349delFs
c.1047delT
5 papers
NM_000284.4
p.A349T
c.1045G>A
2 papers
NM_000284.4
p.A353T
c.1057G>A
2 papers
NM_000284.4
p.A353P
c.1057G>C
1 paper
NM_000284.4
p.A349_A350insAGA
c.1045_1049ins9
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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."