Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.A285Splc

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
1 paper
NM_000709.4
p.A285Splc
c.854-1G>T
Surrounding Variants
1 paper
NM_000709.4
p.A285Splc
c.854-1G>C
1 paper
NM_000709.4
p.A286_Y291del0
c.857_871del15
4 papers
NM_000709.4
p.R287_P289delFs
c.859_866del8
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
3 papers
NM_000709.4
p.G288fs
c.862_863fs
4 papers
NM_000709.4
p.G288D
c.863G>A
13 papers
NM_000709.4
p.G290R
c.868G>A
12 papers
NM_000709.4
p.G290R
c.868G>C
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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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."