Varaico: Literature-Extracted Genetic Variants

Gene:PDHA2
Variant:p.L224Q

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.L224Q
c.671T>A
Surrounding Variants
1 paper
NM_005390.5
p.N223S
c.668A>G
7 papers
NM_005390.5
p.M227V
c.679A>G
1 paper
NM_005390.5
p.A236T
c.706G>A
1 paper
NM_005390.5
p.A209T
c.625G>A
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.N207I
c.620A>T
1 paper
NM_005390.5
p.Y241*
c.723C>A
1 paper
NM_005390.5
p.Y241*
c.723C>G
1 paper
NM_005390.5
p.A205S
c.613G>T
1 paper
NM_005390.5
p.N245_F246del2
c.733_737del6
1 paper
NM_005390.5
p.E204K
c.610G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."