Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.C258Y

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.C258Y
c.773G>A
Surrounding Variants
1 paper
NM_000709.4
p.C258insFs
c.773_774insT
1 paper
NM_000709.4
p.C258*
c.774C>A
2 papers
NM_000709.4
p.P259L
c.776C>T
1 paper
NM_000709.4
p.L256delFs
c.768delT
1 paper
NM_000709.4
p.I261delFs
c.782delT
1 paper
NM_000709.4
p.F263del1
c.787_788delTTC
1 paper
NM_000709.4
p.A253V
c.758C>T
1 paper
NM_000709.4
p.F263S
c.788T>C
9 papers
NM_000709.4
p.A253T
c.757G>A
1 paper
NM_000709.4
p.C264Y
c.791G>A
1 paper
NM_000709.4
p.R265W
c.793C>T
1 paper
NM_000709.4
p.R265delFs
c.795delG
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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."