Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.A220_Y221delFs

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
3 papers
NM_000709.4
p.A220_Y221delFs
c.659_662del4
Surrounding Variants
16 papers
NM_000709.4
p.A220V
c.659C>T
1 paper
NM_000709.4
p.A219E
c.656C>A
1 paper
NM_000709.4
p.A219T
c.655G>A
1 paper
NM_000709.4
p.A219fs
c.655_656fs
3 papers
NM_000709.4
p.Y221fs
c.661_662fs
5 papers
NM_000709.4
p.A216V
c.647C>T
6 papers
NM_000709.4
p.A216Splc
c.647-1G>C
1 paper
NM_000709.4
p.R225W
c.673C>T
1 paper
NM_000709.4
p.R230G
c.688A>G
1 paper
NM_000709.4
p.V231V
c.693C>T
4 papers
NM_000709.4
p.Y235delFs
c.703delT
1 paper
NM_000709.4
p.Y235fs
c.703_704fs
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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."