Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.Y369*

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.Y369*
c.1107C>A
Surrounding Variants
2 papers
NM_000284.4
p.Y369H
c.1105T>C
1 paper
NM_000284.4
p.S370S
c.1110C>G
1 paper
NM_000284.4
p.I368ins2
c.1102_1103ins6
2 papers
NM_000284.4
p.H367P
c.1100A>C
3 papers
NM_000284.4
p.H367L
c.1100A>T
1 paper
NM_000284.4
p.P374_K387ins4
c.1121_1159dup39
1 paper
NM_000284.4
p.P374A
c.1120C>G
1 paper
NM_000284.4
p.E376insFs
c.1126_1127insTT
1 paper
NM_000284.4
p.E362_Y366delFs
c.1086_1098del13
1 paper
NM_000284.4
p.E362K
c.1084G>A
1 paper
NM_000284.4
p.R378G
c.1132C>G
22 papers
NM_000284.4
p.R378C
c.1132C>T
NM_001173454.2
p.R416C
c.1246C>T
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