Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R378H

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
23 papers
NM_000284.4
p.R378H
c.1133G>A
Surrounding Variants
1 paper
NM_000284.4
p.R378G
c.1132C>G
22 papers
NM_000284.4
p.R378C
c.1132C>T
NM_001173454.2
p.R416C
c.1246C>T
1 paper
NM_000284.4
p.G379_K387insFs
c.1137_1159dup23
1 paper
NM_000284.4
p.A380insFs
c.1139_1140ins4
15 papers
NM_000284.4
p.N381_Q382insFs
c.1142_1145dup4
1 paper
NM_000284.4
p.A380_I384insFs
c.1140_1150dup11
1 paper
NM_000284.4
p.A380_S388delFs
c.1140_1162del23
1 paper
NM_000284.4
p.E376insFs
c.1126_1127insTT
1 paper
NM_000284.4
p.N381_Q382ins8
c.1141_1145ins24
1 paper
NM_000284.4
p.N381fs
c.1141_1142fs
2 papers
NM_000284.4
p.N381_Q382ins8
c.1143_1144ins24
1 paper
NM_000284.4
p.Q382insFs
c.1145dupA
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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."