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.Q47*

c.139C>T

Surrounding Variants

1 paper

NM_183050.4

p.A46T

c.136G>A

1 paper

NM_183050.4

p.D44E

c.132T>G

1 paper

NM_183050.4

p.Q50delFs

c.150delG

1 paper

NM_183050.4

p.Q50_V51delFs

c.150_151delGG

1 paper

NM_183050.4

p.E43K

c.127G>A

1 paper

NM_183050.4

p.V51L

c.151G>C

1 paper

NM_183050.4

p.V51delFs

c.152delT

1 paper

NM_183050.4

p.T41delFs

c.121_122delAC

2 papers

NM_183050.4

p.T55_F56insFs

c.163_166dup4

1 paper

NM_183050.4

p.A39A

c.117C>G

1 paper

NM_183050.4

p.A39D

c.116C>A

1 paper

NM_183050.4

p.A39V

c.116C>T