Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.E345_I346insFs

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.E345_I346insFs
c.1034_1037dup4
Surrounding Variants
1 paper
NM_000284.4
p.E345*
c.1033G>T
1 paper
NM_000284.4
p.E345_I346insFs
c.1035_1036dupGA
1 paper
NM_000284.4
p.E345_P360insFs
c.1033_1078dup46
1 paper
NM_000284.4
p.E345delFs
c.1033_1034delGA
1 paper
NM_000284.4
p.I346fs
c.1036_1037fs
1 paper
NM_000284.4
p.E347_A350ins1
c.1040_1048dup9
1 paper
NM_000284.4
p.E347_A355ins3
c.1040_1063dup24
1 paper
NM_000284.4
p.E347_A349delFs
c.1039_1045del7
1 paper
NM_000284.4
p.E347_A349insFs
c.1040_1046dup7
1 paper
NM_000284.4
p.D348_A349insFs
c.1042_1045dup4
1 paper
NM_000284.4
p.V342_Q351insFs
c.1026_1051dup26
1 paper
NM_000284.4
p.V342fs
c.1024_1025fs
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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."