Varaico: Literature-Extracted Genetic Variants

BCKDHB

215 papers

RefSeq Summary

This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the...

Pfam Domains

Transket_pyraa 69–247UCSCTransketolase, pyrimidine binding domain

Transketolase_Caa 261–382UCSCTransketolase, C-terminal domain

Gene Aliases

HGNC Name

branched chain keto acid dehydrogenase E1 subunit beta

HGNC Alias Symbol

OVD1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_183050.4

p.A32fs

c.94_95fs

Surrounding Variants

1 paper

NM_183050.4

p.R33_G34del2

c.97_101del6

1 paper

NM_183050.4

p.A32delFs

c.94delG

1 paper

NM_183050.4

p.L31fs

c.91_92fs

1 paper

NM_183050.4

p.G34delFs

c.101delG

1 paper

NM_183050.4

p.G34fs

c.100_101fs

1 paper

NM_183050.4

p.A29insFs

c.86_87ins4

1 paper

NM_183050.4

p.L36insFs

c.107dupT

1 paper

NM_183050.4

p.F35delFs

c.103delT

6 papers

NM_183050.4

p.F35fs

c.103_104fs

2 papers

NM_183050.4

p.F35fs

c.103_104fs

1 paper

NM_183050.4

p.A29_A32del4

c.85_95del12

1 paper

NM_183050.4

p.A29insFs

c.85_86ins4