Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.N328_L329insFs

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.N328_L329insFs
c.983_986dup4
Surrounding Variants
1 paper
NM_000284.4
p.N328_L329insAGA
c.982_986ins9
1 paper
NM_000284.4
p.N328_L329insFs
c.982_985dup4
1 paper
NM_000284.4
p.L329_E333insFs
c.985_998dup14
1 paper
NM_000284.4
p.L329_E333insFs
c.986_998dup13
3 papers
NM_000284.4
p.L329R
c.986T>G
1 paper
NM_000284.4
p.N326_L335ins3
c.978_1004dup27
1 paper
NM_000284.4
p.A330G
c.989C>G
1 paper
NM_000284.4
p.R323K
c.968G>A
1 paper
NM_000284.4
p.R323_L335ins4
c.969_1004dup36
1 paper
NM_000284.4
p.R323_S327insFs
c.968_980dup13
1 paper
NM_000284.4
p.R323W
c.967A>T
2 papers
NM_000284.4
p.R323_N326del0
c.968_976del9
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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."