Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.A236T

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.A236T
c.706G>A
Surrounding Variants
1 paper
NM_000284.4
p.A236_T240Fs
c.706_719delinsGFs
1 paper
NM_000284.4
p.A236_T240delFs
c.706_719del14
2 papers
NM_000284.4
p.A236E
c.707C>A
4 papers
NM_000284.4
p.R235G
c.703A>G
2 papers
NM_000284.4
p.R235fs
c.703_704fs
1 paper
NM_000284.4
p.V233_E234ins5
c.699_700ins15
3 papers
NM_000284.4
p.R235_A236delFs
c.705_706delAG
1 paper
NM_000284.4
p.R235_A236delFs
c.703_706del4
1 paper
NM_001173454.2
p.S270ins2
c.809_810ins6
4 papers
NM_000284.4
p.S232A
c.694T>G
1 paper
NM_000284.4
p.D241_Y242insFs
c.721_724dup4
1 paper
NM_000284.4
p.T240I
c.719C>T
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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."