Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.G144D

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.G144D
c.431G>A
Surrounding Variants
1 paper
NM_000284.4
p.G144S
c.430G>A
1 paper
NM_000284.4
p.G144R
c.430G>C
2 papers
NM_000284.4
p.C145del1
c.433_435delTGT
3 papers
NM_000284.4
p.G144del1
c.430_431delGGT
3 papers
NM_000284.4
p.C145Y
c.434G>A
NM_001173454.2
p.C183Y
c.548G>A
1 paper
NM_000284.4
p.G143R
c.427G>A
1 paper
NM_000284.4
p.K142K
c.426A>G
3 papers
NM_000284.4
p.G143_G144del1
c.429_431delAGG
7 papers
NM_000284.4
p.R141Q
c.422G>A
4 papers
NM_000284.4
p.R141L
c.422G>T
2 papers
NM_001173454.2
p.R179G
c.535C>G
NM_000284.4
p.R141G
c.421C>G
2 papers
NM_000284.4
p.R141*
c.421C>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."