Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.G256R

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.G256R
c.766G>A
Surrounding Variants
1 paper
NM_000284.4
p.G256R
c.766G>C
1 paper
NM_000284.4
p.G256E
c.767G>A
1 paper
NM_000284.4
p.D255fs
c.763_764fs
1 paper
NM_000284.4
p.V254A
c.761T>C
3 papers
NM_000284.4
p.D258A
c.773A>C
1 paper
NM_000284.4
p.R253_V254Splc
c.760-2A>G
1 paper
NM_000284.4
p.L260V
c.778C>G
1 paper
NM_000284.4
p.L260L
c.780G>C
1 paper
NM_000284.4
p.C261insFs
c.782dupG
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.V262F
c.784G>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."