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

16 papers

NM_183050.4

p.G336S

c.1006G>A

Surrounding Variants

2 papers

NM_183050.4

p.G335D

c.1004G>A

1 paper

NM_183050.4

p.G335R

c.1003G>C

1 paper

NM_183050.4

p.S339P

c.1015T>C

14 papers

NM_183050.4

p.S339L

c.1016C>T

6 papers

NM_183050.4

p.P332L

c.995C>T

3 papers

NM_183050.4

p.A331T

c.991G>A

1 paper

NM_183050.4

p.I341N

c.1022T>A

1 paper

NM_183050.4

p.E330G

c.989A>G

7 papers

NM_183050.4

p.E330K

c.988G>A

1 paper

NM_183050.4

p.S342N

c.1025G>A

1 paper

NM_183050.4

p.S343A

c.1027T>G

4 papers

NM_183050.4

p.S343delFs

c.1028delC