Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA

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
1–12 of 325 variants
28 papers
NM_000709.4
p.Y438N
c.1312T>A
16 papers
NM_000709.4
p.A220V
c.659C>T
15 papers
NM_000709.4
p.P39delFs
c.117delC
14 papers
NM_000709.4
p.T151M
c.452C>T
13 papers
NM_000709.4
p.H37insFs
c.111dupC
13 papers
NM_000709.4
p.T211M
c.632C>T
13 papers
NM_000709.4
p.G290R
c.868G>A
12 papers
NM_000709.4
p.G290R
c.868G>C
9 papers
NM_000709.4
p.A253T
c.757G>A
9 papers
NM_000709.4
p.A270T
c.808G>A
9 papers
NM_000709.4
p.D302A
c.905A>C
9 papers
NM_000709.4
p.R314*
c.940C>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."