Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.H437_P439delFs

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.H437_P439delFs
c.1310_1317del8
Surrounding Variants
1 paper
NM_000709.4
p.H437fs
c.1309_1310fs
2 papers
NM_000709.4
p.H437fs
c.1309_1310fs
3 papers
NM_000709.4
p.H437delFs
c.1310_1311delAC
1 paper
NM_000709.4
p.E436G
c.1307A>G
28 papers
NM_000709.4
p.Y438N
c.1312T>A
1 paper
NM_000709.4
p.Y438H
c.1312T>C
1 paper
NM_000709.4
p.Y438C
c.1313A>G
1 paper
NM_000709.4
p.L431L
c.1291C>T
5 papers
NM_000709.4
p.L427V
c.1279C>G
4 papers
NM_000709.4
p.L427_A428del1
c.1280_1282delTGG
1 paper
NM_000709.4
p.S426_L427insFs
c.1278_1279ins4
2 papers
NM_000709.4
p.L427_L431del0
c.1280_1291del12
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