Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.H194R

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.H194R
c.581A>G
Surrounding Variants
1 paper
NM_000709.4
p.H194P
c.581A>C
1 paper
NM_000709.4
p.K198M
c.593A>T
1 paper
NM_000709.4
p.Q190K
c.568C>A
1 paper
NM_000709.4
p.E199delFs
c.595_596delGA
1 paper
NM_000709.4
p.R189P
c.566G>C
6 papers
NM_000709.4
p.R189C
c.565C>T
1 paper
NM_000709.4
p.R200G
c.598C>G
6 papers
NM_000709.4
p.G188W
c.562G>T
1 paper
NM_000709.4
p.L185_K187Fs
c.554_559delinsTGTGFs
1 paper
NM_000709.4
p.V203I
c.607G>A
1 paper
NM_000709.4
p.L185W
c.554T>G
1 paper
NM_000709.4
p.S183N
c.548G>A
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