Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.I87M

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.I87M
c.261T>G
Surrounding Variants
15 papers
NM_000284.4
p.R88S
c.262C>A
1 paper
NM_000284.4
p.R88G
c.262C>G
15 papers
NM_000284.4
p.R88C
c.262C>T
NM_001173454.2
p.R126C
c.376C>T
2 papers
NM_000284.4
p.I87T
c.260T>C
1 paper
NM_000284.4
p.R88H
c.263G>A
14 papers
NM_000284.4
p.G89S
c.265G>A
1 paper
NM_000284.4
p.G89R
c.265G>C
1 paper
NM_000284.4
p.K85fs
c.253_254fs
1 paper
NM_000284.4
p.F90S
c.269T>C
1 paper
NM_000284.4
p.C91S
c.271T>A
1 paper
NM_000284.4
p.Q84_K85delFs
c.252_253delGA
1 paper
NM_000284.4
p.C91S
c.272G>C
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