Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.N381fs

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.N381fs
c.1141_1142fs
Surrounding Variants
1 paper
NM_000284.4
p.N381_Q382ins8
c.1141_1145ins24
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
2 papers
NM_000284.4
p.N381_Q382ins8
c.1143_1144ins24
1 paper
NM_000284.4
p.Q382insFs
c.1145dupA
1 paper
NM_000284.4
p.Q382_K387insFs
c.1146_1159dup14
1 paper
NM_000284.4
p.Q382fs
c.1144_1145fs
1 paper
NM_000284.4
p.Q382*
c.1144C>T
1 paper
NM_000284.4
p.Q382_W383delFs
c.1145_1149del5
1 paper
NM_000284.4
p.A380insFs
c.1139_1140ins4
1 paper
NM_000284.4
p.W383del1
c.1147_1148delTGG
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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."