Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.G150R

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.G150R
c.448G>C
Surrounding Variants
1 paper
NM_000284.4
p.G150R
c.448G>A
2 papers
NM_000284.4
p.K149K
c.447A>G
1 paper
NM_000284.4
p.K149N
c.447A>T
3 papers
NM_000284.4
p.G150E
c.449G>A
2 papers
NM_000284.4
p.G151R
c.451G>A
2 papers
NM_000284.4
p.G151R
c.451G>C
1 paper
NM_000284.4
p.G148G
c.444G>C
1 paper
NM_000284.4
p.G148G
c.444G>T
2 papers
NM_000284.4
p.G148R
c.442G>A
2 papers
NM_000284.4
p.G148R
c.442G>C
1 paper
NM_000284.4
p.S152T
c.454T>A
1 paper
NM_000284.4
p.S152P
c.454T>C
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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."