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

4 papers

NM_183050.4

p.Y256*

c.768C>G

Surrounding Variants

4 papers

NM_183050.4

p.Y256*

c.768C>A

1 paper

NM_183050.4

p.Y256S

c.767A>C

7 papers

NM_183050.4

p.Y256C

c.767A>G

1 paper

NM_183050.4

p.Y256delFs

c.768delC

1 paper

NM_183050.4

p.I258insFs

c.773_774insT

2 papers

NM_183050.4

p.I258F

c.772A>T

2 papers

NM_183050.4

p.P259L

c.776C>T

1 paper

NM_183050.4

p.I253fs

c.757_758fs

1 paper

NM_183050.4

p.P252_I253delFs

c.756_759del4

1 paper

NM_183050.4

p.S261P

c.781T>C

1 paper

NM_183050.4

p.S261delFs

c.782delC

1 paper

NM_183050.4

p.P252S

c.754C>T