Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.H44R

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
13 papers
NM_000284.4
p.H44R
c.131A>G
Surrounding Variants
1 paper
NM_000284.4
p.H44Q
c.132C>A
1 paper
NM_000284.4
p.H44Q
c.132C>G
1 paper
NM_000284.4
p.C41R
c.121T>C
1 paper
NM_000284.4
p.C41_D42del1
c.122_124delGTG
1 paper
NM_000284.4
p.K40Q
c.118A>C
1 paper
NM_000284.4
p.G49G
c.147C>G
1 paper
NM_000284.4
p.P50S
c.148C>T
1 paper
NM_000284.4
p.P50R
c.149C>G
1 paper
NM_000284.4
p.T53insFs
c.157dupA
1 paper
NM_000284.4
p.E59_R73del15
c.175_218del45
1 paper
NM_000284.4
p.E59insFs
c.177dupG
1 paper
NM_000284.4
p.G61E
c.182G>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."