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.Q148H

c.444G>C

Surrounding Variants

1 paper

NM_183050.4

p.Q148H

c.444G>T

1 paper

NM_183050.4

p.F149delFs

c.445_446delTT

1 paper

NM_183050.4

p.F149L

c.445T>C

1 paper

NM_183050.4

p.F149fs

c.445_446fs

1 paper

NM_183050.4

p.F149S

c.446T>C

1 paper

NM_183050.4

p.F149C

c.446T>G

1 paper

NM_183050.4

p.A150_D151del2

c.448_452del6

1 paper

NM_183050.4

p.F149L

c.447T>A

1 paper

NM_183050.4

p.F149L

c.447T>G

1 paper

NM_183050.4

p.E146Q

c.436G>C

1 paper

NM_183050.4

p.E146Fs

c.436delinsCAFs

1 paper

NM_183050.4

p.E146fs

c.436_437fs