Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.S300Splc

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.S300Splc
c.900-1G>A
Surrounding Variants
1 paper
NM_001173454.2
p.S338_Y339insFs
c.1014_1017dup4
1 paper
NM_000284.4
p.S300_R311ins4
c.900_932dup33
1 paper
NM_000284.4
p.Y301F
c.902A>T
1 paper
NM_000284.4
p.Y301*
c.903C>A
1 paper
NM_000284.4
p.Y301*
c.903C>G
1 paper
NM_000284.4
p.R302fs
c.904_905fs
38 papers
NM_000284.4
p.R302C
c.904C>T
1 paper
NM_001173454.2
p.R340fs
c.1018_1019fs
18 papers
NM_000284.4
p.R302H
c.905G>A
NM_001173456.2
p.R271H
c.812G>A
3 papers
NM_000284.4
p.R302L
c.905G>T
1 paper
NM_000284.4
p.T303T
c.909A>G
7 papers
NM_000284.4
p.R304*
c.910C>T
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