Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.H96delFs

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.H96delFs
c.287delA
Surrounding Variants
4 papers
NM_000709.4
p.H96_L97Splc
c.288+1G>A
1 paper
NM_000709.4
p.D94G
c.281A>G
1 paper
NM_000709.4
p.E93*
c.277G>T
6 papers
NM_000709.4
p.H96_L97Splc
c.288+9C>T
1 paper
NM_000709.4
p.P91T
c.271C>A
1 paper
NM_000709.4
p.M82I
c.246G>A
1 paper
NM_000709.4
p.M82I
c.246G>C
1 paper
NM_000709.4
p.M82I
c.246G>T
1 paper
NM_000709.4
p.V81delFs
c.241_242delGT
1 paper
NM_000709.4
p.R80H
c.239G>A
1 paper
NM_000709.4
p.I78T
c.233T>C
1 paper
NM_000709.4
p.I73insFs
c.219dupC
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