Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.A241_S242del2

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.A241_S242del2
c.721_725del6
Surrounding Variants
1 paper
NM_000709.4
p.E243del1
c.727_729delGAG
1 paper
NM_000709.4
p.A240delFs
c.718delG
3 papers
NM_000709.4
p.E238K
c.712G>A
1 paper
NM_000709.4
p.E238delFs
c.713delA
1 paper
NM_000709.4
p.E243_G244insFs
c.729_730insTT
4 papers
NM_000709.4
p.G244E
c.731G>A
1 paper
NM_000709.4
p.G237fs
c.709_710fs
1 paper
NM_000709.4
p.G237delFs
c.710delG
1 paper
NM_000709.4
p.D245E
c.735C>A
1 paper
NM_000709.4
p.D245E
c.735C>G
2 papers
NM_000709.4
p.A246T
c.736G>A
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."