Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.E334*

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.E334*
c.1000G>T
Surrounding Variants
1 paper
NM_000284.4
p.E334K
c.1000G>A
1 paper
NM_000284.4
p.K336ins0
c.1006_1008dupAAG
2 papers
NM_000284.4
p.K336Q
c.1006A>C
2 papers
NM_000284.4
p.K336R
c.1007A>G
1 paper
NM_000284.4
p.A330G
c.989C>G
1 paper
NM_000284.4
p.K336_E337Splc
c.1008+4C>T
3 papers
NM_000284.4
p.L329R
c.986T>G
1 paper
NM_000284.4
p.L329_E333insFs
c.986_998dup13
1 paper
NM_000284.4
p.L329_E333insFs
c.985_998dup14
1 paper
NM_000284.4
p.N328_L329insFs
c.983_986dup4
1 paper
NM_000284.4
p.N328_L329insAGA
c.982_986ins9
1 paper
NM_000284.4
p.N328_L329insFs
c.982_985dup4
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