Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.G139V

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.G139V
c.416G>T
Surrounding Variants
1 paper
NM_000709.4
p.G139D
c.416G>A
1 paper
NM_000709.4
p.T140A
c.418A>G
1 paper
NM_000709.4
p.E138*
c.412G>T
2 papers
NM_000709.4
p.E137K
c.409G>A
1 paper
NM_000709.4
p.G136del1
c.406_407delGGT
2 papers
NM_000709.4
p.S144I
c.431G>T
1 paper
NM_000709.4
p.A146Fs
c.436delinsCAFs
1 paper
NM_000709.4
p.A146V
c.437C>T
1 paper
NM_000709.4
p.M132T
c.395T>C
2 papers
NM_000709.4
p.Y131C
c.392A>G
1 paper
NM_000709.4
p.A147A
c.441C>A
1 paper
NM_000709.4
p.F130C
c.389T>G
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."