Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.G290R

BCKDHA

228 papers

RefSeq Summary

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acid...

Pfam Domains

E1_dhaa 106–406UCSCDehydrogenase E1 component

Gene Aliases

HGNC Name

branched chain keto acid dehydrogenase E1 subunit alpha

HGNC Previous Symbol

OVD1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_000709.4
p.G290R
c.868G>A
Surrounding Variants
12 papers
NM_000709.4
p.G290R
c.868G>C
4 papers
NM_000709.4
p.G288D
c.863G>A
3 papers
NM_000709.4
p.G288fs
c.862_863fs
4 papers
NM_000709.4
p.R287G
c.859C>G
9 papers
NM_001164783.2
p.R286*
c.856C>T
NM_000709.4
p.R287*
c.859C>T
4 papers
NM_000709.4
p.R287_P289delFs
c.859_866del8
1 paper
NM_000709.4
p.A286_Y291del0
c.857_871del15
1 paper
NM_000709.4
p.A285Splc
c.854-1G>C
1 paper
NM_000709.4
p.A285Splc
c.854-1G>T
4 papers
NM_000709.4
p.R297C
c.889C>T
8 papers
NM_000709.4
p.R297H
c.890G>A
1 paper
NM_000709.4
p.V298M
c.892G>A
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