Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.Q322K

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.Q322K
c.964C>A
Surrounding Variants
1 paper
NM_000709.4
p.Q322*
c.964C>T
5 papers
NM_000709.4
p.F324F
c.972C>T
1 paper
NM_000709.4
p.A319P
c.955G>C
1 paper
NM_000709.4
p.V318E
c.953T>A
2 papers
NM_000709.4
p.I326T
c.977T>C
9 papers
NM_000709.4
p.E327K
c.979G>A
2 papers
NM_000709.4
p.R316fs
c.946_947fs
3 papers
NM_000709.4
p.A328T
c.982G>A
1 paper
NM_000709.4
p.R315Q
c.944G>A
1 paper
NM_000709.4
p.M329V
c.985A>G
1 paper
NM_000709.4
p.R315W
c.943C>T
2 papers
NM_000709.4
p.R316_A319delFs
c.947_956del10
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."