Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.V262F

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
2 papers
NM_000284.4
p.V262F
c.784G>T
Surrounding Variants
1 paper
NM_000284.4
p.V262I
c.784G>A
2 papers
NM_000284.4
p.V262L
c.784G>C
2 papers
NM_000284.4
p.V262G
c.785T>G
40 papers
NM_000284.4
p.R263G
c.787C>G
NM_001173454.2
p.R301G
c.901C>G
5 papers
NM_000284.4
p.R263*
c.787C>T
1 paper
NM_000284.4
p.C261insFs
c.782dupG
5 papers
NM_000284.4
p.R263Q
c.788G>A
3 papers
NM_000284.4
p.R263P
c.788G>C
1 paper
NM_000284.4
p.L260L
c.780G>C
1 paper
NM_000284.4
p.L260V
c.778C>G
3 papers
NM_000284.4
p.D258A
c.773A>C
1 paper
NM_000284.4
p.A265A
c.795A>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."