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

5 papers

NM_183050.4

p.T273I

c.818C>T

Surrounding Variants

3 papers

NM_183050.4

p.T273P

c.817A>C

1 paper

NM_183050.4

p.L274del1

c.820_821delCTA

1 paper

NM_183050.4

p.S270N

c.809G>A

1 paper

NM_183050.4

p.S270_L274delFs

c.808_821del14

2 papers

NM_183050.4

p.G269E

c.806G>A

1 paper

NM_183050.4

p.W277C

c.831G>C

1 paper

NM_183050.4

p.W277C

c.831G>T

27 papers

NM_183050.4

p.G278S

c.832G>A

1 paper

NM_183050.4

p.G278D

c.833G>A

4 papers

NM_183050.4

p.G278_T279ins0

c.834_836dupCAC

1 paper

NM_183050.4

p.G278_T279ins1

c.834_835insCAC

1 paper

NM_183050.4

p.G278ins1

c.833_834ins3