Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.C145Y

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
3 papers
NM_000284.4
p.C145Y
c.434G>A
NM_001173454.2
p.C183Y
c.548G>A
Surrounding Variants
2 papers
NM_000284.4
p.G144D
c.431G>A
1 paper
NM_000284.4
p.G144S
c.430G>A
1 paper
NM_000284.4
p.G144R
c.430G>C
2 papers
NM_000284.4
p.C145del1
c.433_435delTGT
3 papers
NM_000284.4
p.G144del1
c.430_431delGGT
1 paper
NM_000284.4
p.G143R
c.427G>A
1 paper
NM_000284.4
p.K142K
c.426A>G
2 papers
NM_000284.4
p.G148R
c.442G>A
2 papers
NM_000284.4
p.G148R
c.442G>C
3 papers
NM_000284.4
p.G143_G144del1
c.429_431delAGG
1 paper
NM_000284.4
p.G148G
c.444G>C
1 paper
NM_000284.4
p.G148G
c.444G>T
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