Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.T240I

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.T240I
c.719C>T
Surrounding Variants
1 paper
NM_000284.4
p.D241_Y242insFs
c.721_724dup4
4 papers
NM_000284.4
p.Y243del1
c.727_728delTAC
1 paper
NM_000284.4
p.Y242*
c.726C>A
1 paper
NM_000284.4
p.Y242*
c.726C>G
5 papers
NM_000284.4
p.Y243N
c.727T>A
6 papers
NM_000284.4
p.Y243S
c.728A>C
2 papers
NM_000284.4
p.Y243C
c.728A>G
4 papers
NM_000284.4
p.Y243*
c.729C>A
3 papers
NM_000284.4
p.Y243*
c.729C>G
1 paper
NM_000284.4
p.K244delFs
c.730_731delAA
1 paper
NM_000284.4
p.K244R
c.731A>G
2 papers
NM_000284.4
p.A236E
c.707C>A
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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."