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.K211N

c.633G>C

Surrounding Variants

2 papers

NM_183050.4

p.K211N

c.633G>T

4 papers

NM_183050.4

p.K211_V212Splc

c.633+1G>A

2 papers

NM_183050.4

p.K211_V212Splc

c.633+1G>T

1 paper

NM_183050.4

p.G209R

c.625G>A

2 papers

NM_183050.4

p.C207F

c.620G>T

1 paper

NM_183050.4

p.H206R

c.617A>G

3 papers

NM_183050.4

p.H206Y

c.616C>T

1 paper

NM_183050.4

p.F204insFs

c.612dupT

1 paper

NM_183050.4

p.A202V

c.605C>T

2 papers

NM_183050.4

p.A202T

c.604G>A

4 papers

NM_183050.4

p.P200L

c.599C>T

2 papers

NM_183050.4

p.P200fs

c.598_599fs