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.K166E

c.496A>G

Surrounding Variants

2 papers

NM_183050.4

p.K166N

c.498G>C

2 papers

NM_183050.4

p.K166N

c.498G>T

1 paper

NM_183050.4

p.Y167S

c.500A>C

1 paper

NM_183050.4

p.Y167F

c.500A>T

11 papers

NM_183050.4

p.R168C

c.502C>T

1 paper

NM_183050.4

p.A164T

c.490G>A

7 papers

NM_183050.4

p.R168H

c.503G>A

2 papers

NM_183050.4

p.E163V

c.488A>T

8 papers

NM_183050.4

p.E163*

c.487G>T

6 papers

NM_183050.4

p.Y169C

c.506A>G

3 papers

NM_183050.4

p.N162D

c.484A>G

1 paper

NM_183050.4

p.R170S

c.508C>A