Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.L427_A428del1

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
4 papers
NM_000709.4
p.L427_A428del1
c.1280_1282delTGG
Surrounding Variants
5 papers
NM_000709.4
p.L427V
c.1279C>G
1 paper
NM_000709.4
p.S426_L427insFs
c.1278_1279ins4
2 papers
NM_000709.4
p.L427_L431del0
c.1280_1291del12
5 papers
NM_000709.4
p.Q424*
c.1270C>T
3 papers
NM_000709.4
p.Q424fs
c.1270_1271fs
4 papers
NM_000709.4
p.Q424insFs
c.1270dupC
1 paper
NM_000709.4
p.Q423fs
c.1267_1268fs
2 papers
NM_000709.4
p.Q423*
c.1267C>T
1 paper
NM_000709.4
p.L431L
c.1291C>T
1 paper
NM_000709.4
p.Q423delFs
c.1267delC
1 paper
NM_000709.4
p.R421P
c.1262G>C
1 paper
NM_000709.4
p.A418G
c.1253C>G
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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."