Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.Q69*

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
2 papers
NM_000709.4
p.Q69*
c.205C>T
Surrounding Variants
1 paper
NM_000709.4
p.N71S
c.212A>G
1 paper
NM_000709.4
p.E66*
c.196G>T
1 paper
NM_000709.4
p.I73insFs
c.219dupC
1 paper
NM_000709.4
p.I73delFs
c.219delC
1 paper
NM_000709.4
p.K64delFs
c.191delA
1 paper
NM_000709.4
p.D63G
c.188A>G
1 paper
NM_000709.4
p.D63delins
c.188_189delinsCA
5 papers
NM_000709.4
p.E60*
c.178G>T
1 paper
NM_000709.4
p.I78T
c.233T>C
1 paper
NM_000709.4
p.R80H
c.239G>A
1 paper
NM_000709.4
p.V81delFs
c.241_242delGT
1 paper
NM_000709.4
p.A57fs
c.169_170fs
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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."