Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.T354P

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
2 papers
NM_000284.4
p.T354P
c.1060A>C
Surrounding Variants
1 paper
NM_000284.4
p.T354M
c.1061C>T
1 paper
NM_000284.4
p.A355_D356del0
c.1063_1068del6
2 papers
NM_000284.4
p.A353T
c.1057G>A
2 papers
NM_000284.4
p.A353P
c.1057G>C
1 paper
NM_000284.4
p.A355delFs
c.1065delC
1 paper
NM_000284.4
p.D356_L364insFs
c.1066_1090dup25
1 paper
NM_000284.4
p.A355insFs
c.1064_1065ins4
1 paper
NM_000284.4
p.A355A
c.1065C>A
1 paper
NM_000284.4
p.Q351P
c.1052A>C
1 paper
NM_000284.4
p.F352_A353delFs
c.1054_1057del4
1 paper
NM_000284.4
p.P357_D372insFs
c.1069_1114dup46
1 paper
NM_000284.4
p.Q351*
c.1051C>T
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