Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.E358K

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
4 papers
NM_000284.4
p.E358K
c.1072G>A
Surrounding Variants
1 paper
NM_000284.4
p.E358_G365delFs
c.1073_1094del22
1 paper
NM_000284.4
p.P357_E363ins2
c.1071_1088dup18
1 paper
NM_000284.4
p.E358_L364delFs
c.1073_1092del20
1 paper
NM_000284.4
p.P359L
c.1076C>T
1 paper
NM_000284.4
p.P357_D372insFs
c.1069_1114dup46
1 paper
NM_000284.4
p.A355A
c.1065C>A
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.L361_H367delFs
c.1081_1100del20
1 paper
NM_000284.4
p.A355delFs
c.1065delC
1 paper
NM_000284.4
p.A355_D356del0
c.1063_1068del6
1 paper
NM_000284.4
p.L361_I368insFs
c.1083_1102dup20
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