Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.T273P

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.T273P
c.817A>C
Surrounding Variants
2 papers
NM_000709.4
p.T273M
c.818C>T
9 papers
NM_000709.4
p.A270T
c.808G>A
1 paper
NM_000709.4
p.A270_P274delFs
c.808_821del14
1 paper
NM_000709.4
p.E277K
c.829G>A
1 paper
NM_000709.4
p.Q278_Y279ins0
c.834_836dupGTA
1 paper
NM_000709.4
p.G268C
c.802G>T
2 papers
NM_000709.4
p.Q278ins1
c.833_834insCAC
1 paper
NM_000709.4
p.Q278ins1
c.833_834ins3
1 paper
NM_000709.4
p.Y279ins1
c.836_837insCAC
1 paper
NM_000709.4
p.R280insFs
c.838dupC
1 paper
NM_000709.4
p.N266fs
c.796_797fs
1 paper
NM_000709.4
p.R280C
c.838C>T
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."