Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R235_A236delFs

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.R235_A236delFs
c.705_706delAG
Surrounding Variants
1 paper
NM_000284.4
p.V233_E234ins5
c.699_700ins15
1 paper
NM_000284.4
p.R235_A236delFs
c.703_706del4
4 papers
NM_000284.4
p.R235G
c.703A>G
2 papers
NM_000284.4
p.R235fs
c.703_704fs
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.A236_T240delFs
c.706_719del14
2 papers
NM_000284.4
p.T231K
c.692C>A
2 papers
NM_000284.4
p.T231R
c.692C>G
1 paper
NM_000284.4
p.A236T
c.706G>A
1 paper
NM_000284.4
p.A236_T240Fs
c.706_719delinsGFs
6 papers
NM_000284.4
p.T231A
c.691A>G
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