Varaico: Literature-Extracted Genetic Variants

Gene:PDHA2
Variant:p.G249V

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.G249V
c.746G>T
Surrounding Variants
1 paper
NM_005390.5
p.N245K
c.735T>A
1 paper
NM_005390.5
p.N245K
c.735T>G
1 paper
NM_005390.5
p.N245_F246del2
c.733_737del6
1 paper
NM_005390.5
p.Y241*
c.723C>A
1 paper
NM_005390.5
p.Y241*
c.723C>G
2 papers
NM_005390.5
p.Y241N
c.721T>A
1 paper
NM_005390.5
p.Y241D
c.721T>G
1 paper
NM_005390.5
p.A236T
c.706G>A
7 papers
NM_005390.5
p.M227V
c.679A>G
1 paper
NM_005390.5
p.G274A
c.821G>C
1 paper
NM_005390.5
p.L224Q
c.671T>A
1 paper
NM_005390.5
p.N223S
c.668A>G
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