Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.A210V

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
3 papers
NM_000709.4
p.A210V
c.629C>T
Surrounding Variants
1 paper
NM_000709.4
p.T211A
c.631A>G
13 papers
NM_000709.4
p.T211M
c.632C>T
1 paper
NM_000709.4
p.T211T
c.633G>C
1 paper
NM_000709.4
p.Q215K
c.643C>A
5 papers
NM_000709.4
p.A216V
c.647C>T
1 paper
NM_000709.4
p.V203I
c.607G>A
1 paper
NM_000709.4
p.R200G
c.598C>G
1 paper
NM_000709.4
p.E199delFs
c.595_596delGA
1 paper
NM_000709.4
p.K198M
c.593A>T
1 paper
NM_000709.4
p.H194P
c.581A>C
1 paper
NM_000709.4
p.H194R
c.581A>G
1 paper
NM_000709.4
p.Q190K
c.568C>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."