Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R311G

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.R311G
c.931A>G
Surrounding Variants
1 paper
NM_000284.4
p.R311_S312insAT
c.931_935ins6
1 paper
NM_000284.4
p.R311_S312delFs
c.932_935del4
3 papers
NM_000284.4
p.R311_S312delFs
c.933_936del4
2 papers
NM_000284.4
p.K313_S314ins0
c.937_942dup6
1 paper
NM_000284.4
p.S312_K321del10
c.934_962del30
4 papers
NM_000284.4
p.R311del1
c.931_932delAGA
1 paper
NM_000284.4
p.S312fs
c.934_935fs
7 papers
NM_000284.4
p.S312fs
c.934_935fs
1 paper
NM_000284.4
p.S312_K321delFs
c.935_963del29
1 paper
NM_000284.4
p.K313_S314insFs
c.937_940dup4
2 papers
NM_000284.4
p.K313del1
c.937_938delAAG
1 paper
NM_000284.4
p.E309K
c.925G>A
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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."