Varaico: Literature-Extracted Genetic Variants

Gene:PDHA2
Variant:p.G195D

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.G195D
c.584G>A
Surrounding Variants
1 paper
NM_005390.5
p.G193R
c.577G>C
1 paper
NM_005390.5
p.A203S
c.607G>T
1 paper
NM_005390.5
p.E204K
c.610G>A
1 paper
NM_005390.5
p.A205S
c.613G>T
1 paper
NM_005390.5
p.D185N
c.553G>A
1 paper
NM_005390.5
p.N207I
c.620A>T
1 paper
NM_005390.5
p.A209T
c.625G>A
1 paper
NM_005390.5
p.A176S
c.526G>T
1 paper
NM_005390.5
p.A173T
c.517G>A
1 paper
NM_005390.5
p.A173P
c.517G>C
1 paper
NM_005390.5
p.L171P
c.512T>C
2 papers
NM_005390.5
p.P170S
c.508C>T
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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."