Varaico: Literature-Extracted Genetic Variants

Gene:PDHA2
Variant:p.G289A

PDHA2

92 papers

Pfam Domains

E1_dhaa 63–360UCSCDehydrogenase E1 component

Gene Aliases

HGNC Name

pyruvate dehydrogenase E1 subunit alpha 2

HGNC Previous Symbol

PDHAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005390.5
p.G289A
c.866G>C
Surrounding Variants
1 paper
NM_005390.5
p.Y287*
c.861T>A
1 paper
NM_005390.5
p.Y287*
c.861T>G
2 papers
NM_005390.5
p.R286H
c.857G>A
8 papers
NM_005390.5
p.R286P
c.857G>C
1 paper
NM_005390.5
p.V297G
c.890T>G
1 paper
NM_005390.5
p.M280L
c.838A>C
1 paper
NM_005390.5
p.M280L
c.838A>T
1 paper
NM_005390.5
p.T301K
c.902C>A
1 paper
NM_005390.5
p.E303delFs
c.907_908delGA
1 paper
NM_005390.5
p.G276R
c.826G>C
1 paper
NM_005390.5
p.E303K
c.907G>A
1 paper
NM_005390.5
p.K275N
c.825G>C
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