Varaico: Literature-Extracted Genetic Variants

Gene:PDHA2
Variant:p.F84L

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.F84L
c.252C>A
Surrounding Variants
1 paper
NM_005390.5
p.F84L
c.252C>G
1 paper
NM_005390.5
p.F84L
c.250T>C
2 papers
NM_005390.5
p.Q82fs
c.244_245fs
1 paper
NM_005390.5
p.Q82delFs
c.245_246delAG
1 paper
NM_005390.5
p.Y80*
c.240C>A
1 paper
NM_005390.5
p.Y80*
c.240C>G
1 paper
NM_005390.5
p.H90Q
c.270C>A
1 paper
NM_005390.5
p.H90Q
c.270C>G
1 paper
NM_005390.5
p.Q78*
c.232C>T
1 paper
NM_005390.5
p.C92*
c.276C>A
1 paper
NM_005390.5
p.K75_Y80insFs
c.224_240dup17
1 paper
NM_005390.5
p.E96K
c.286G>A
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