Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.A248delFs

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.A248delFs
c.743delC
Surrounding Variants
1 paper
NM_000709.4
p.A248fs
c.742_743fs
1 paper
NM_000709.4
p.H247insFs
c.740_741insT
4 papers
NM_000709.4
p.H247R
c.740A>G
2 papers
NM_000709.4
p.G249S
c.745G>A
1 paper
NM_000709.4
p.G249_C258del0
c.747_773del27
2 papers
NM_000709.4
p.A246T
c.736G>A
1 paper
NM_000709.4
p.D245E
c.735C>A
1 paper
NM_000709.4
p.D245E
c.735C>G
1 paper
NM_000709.4
p.F252_A254delFs
c.754_760del7
4 papers
NM_000709.4
p.G244E
c.731G>A
1 paper
NM_000709.4
p.E243_G244insFs
c.729_730insTT
9 papers
NM_000709.4
p.A253T
c.757G>A
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