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.V319delFs

c.956_957delTG

Surrounding Variants

3 papers

NM_183050.4

p.S318delFs

c.954delT

1 paper

NM_183050.4

p.I320S

c.959T>G

5 papers

NM_183050.4

p.T322A

c.964A>G

2 papers

NM_183050.4

p.T322I

c.965C>T

18 papers

NM_183050.4

p.R324*

c.970C>T

1 paper

NM_183050.4

p.R324Q

c.971G>A

1 paper

NM_183050.4

p.L325R

c.974T>G

1 paper

NM_183050.4

p.L325L

c.975G>A

1 paper

NM_183050.4

p.L326P

c.977T>C

7 papers

NM_183050.4

p.E330K

c.988G>A

1 paper

NM_183050.4

p.E330G

c.989A>G

3 papers

NM_183050.4

p.A331T

c.991G>A