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.I307T

c.920T>C

Surrounding Variants

1 paper

NM_183050.4

p.P309S

c.925C>T

1 paper

NM_183050.4

p.R305G

c.913A>G

1 paper

NM_183050.4

p.L304L

c.910C>T

2 papers

NM_183050.4

p.D311H

c.931G>C

1 paper

NM_183050.4

p.D303G

c.908A>G

2 papers

NM_183050.4

p.D303insFs

c.908_909insA

1 paper

NM_183050.4

p.D303fs

c.907_908fs

2 papers

NM_183050.4

p.D313delFs

c.937delG

1 paper

NM_183050.4

p.E300K

c.898G>A

1 paper

NM_183050.4

p.E300*

c.898G>T

1 paper

NM_183050.4

p.C316R

c.946T>C

1 paper

NM_183050.4

p.K317_S318Splc

c.951+1G>A