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

3 papers

NM_183050.4

p.V283A

c.848T>C

Surrounding Variants

1 paper

NM_183050.4

p.I284_R285delFs

c.852_855del4

28 papers

NM_183050.4

p.R285*

c.853C>T

1 paper

NM_183050.4

p.R285Q

c.854G>A

1 paper

NM_183050.4

p.E286_S289del4

c.856_866del12

1 paper

NM_183050.4

p.E286_A291del0

c.857_871del15

1 paper

NM_183050.4

p.V281fs

c.841_842fs

1 paper

NM_183050.4

p.V281insFs

c.843dupT

1 paper

NM_183050.4

p.V287_S289delFs

c.859_866del8

1 paper

NM_183050.4

p.K294delFs

c.881delA

1 paper

NM_183050.4

p.K294fs

c.880_881fs

3 papers

NM_183050.4

p.L295delFs

c.885delT

1 paper

NM_183050.4

p.G296fs

c.886_887fs