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

1 paper

NM_183050.4

p.V189I

c.565G>A

Surrounding Variants

1 paper

NM_183050.4

p.V189insFs

c.567dupT

5 papers

NM_183050.4

p.C188*

c.564T>A

1 paper

NM_183050.4

p.V189D

c.566T>A

2 papers

NM_183050.4

p.G190D

c.569G>A

1 paper

NM_183050.4

p.G187V

c.560G>T

1 paper

NM_183050.4

p.G187S

c.559G>A

2 papers

NM_183050.4

p.G192R

c.574G>A

2 papers

NM_183050.4

p.G192R

c.574G>C

5 papers

NM_183050.4

p.P185L

c.554C>T

1 paper

NM_183050.4

p.P185_G187Fs

c.554_559delinsTGTGFs

1 paper

NM_183050.4

p.P185S

c.553C>T

7 papers

NM_183050.4

p.L194F

c.580C>T