Varaico: Literature-Extracted Genetic Variants

Gene:PDHA2
Variant:p.K326K

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.K326K
c.978G>A
Surrounding Variants
1 paper
NM_005390.5
p.T329T
c.987T>C
1 paper
NM_005390.5
p.R321K
c.962G>A
1 paper
NM_005390.5
p.R321I
c.962G>T
1 paper
NM_005390.5
p.L318H
c.953T>A
2 papers
NM_005390.5
p.E339D
c.1017G>C
2 papers
NM_005390.5
p.E339D
c.1017G>T
1 paper
NM_005390.5
p.R312S
c.936G>C
1 paper
NM_005390.5
p.R312S
c.936G>T
1 paper
NM_005390.5
p.E307K
c.919G>A
1 paper
NM_005390.5
p.E303K
c.907G>A
1 paper
NM_005390.5
p.E303fs
c.907_908fs
1 paper
NM_005390.5
p.E303delFs
c.907_908delGA
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