Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.Y166D

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.Y166D
c.496T>G
Surrounding Variants
3 papers
NM_000709.4
p.L164P
c.491T>C
1 paper
NM_000709.4
p.V163L
c.487G>T
2 papers
NM_000709.4
p.V163fs
c.487_488fs
1 paper
NM_000709.4
p.Y169C
c.506A>G
1 paper
NM_000709.4
p.L171delFs
c.511delC
1 paper
NM_000709.4
p.G162D
c.485G>A
4 papers
NM_000709.4
p.P170S
c.508C>T
3 papers
NM_000709.4
p.L171delFs
c.512delT
4 papers
NM_000709.4
p.L171fs
c.511_512fs
1 paper
NM_000709.4
p.A176V
c.527C>T
1 paper
NM_000709.4
p.Q177*
c.529C>T
2 papers
NM_000709.4
p.G180R
c.538G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."