Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.Q308H

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.Q308H
c.924G>C
Surrounding Variants
1 paper
NM_000284.4
p.Q308H
c.924G>T
10 papers
NM_000284.4
p.S312_S314delFs
c.934_940del7
1 paper
NM_000284.4
p.E309K
c.925G>A
1 paper
NM_000284.4
p.E309insFs
c.927dupA
1 paper
NM_000284.4
p.E309*
c.925G>T
1 paper
NM_000284.4
p.V310_R311delFs
c.929_932del4
2 papers
NM_000284.4
p.Q308_V310delFs
c.923_929del7
4 papers
NM_000284.4
p.R311del1
c.931_932delAGA
1 paper
NM_000284.4
p.R311_S312insAT
c.931_935ins6
1 paper
NM_000284.4
p.R311G
c.931A>G
1 paper
NM_000284.4
p.R311_S312delFs
c.932_935del4
1 paper
NM_000284.4
p.E306*
c.916G>T
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