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

7 papers

NM_183050.4

p.S199R

c.597T>G

Surrounding Variants

7 papers

NM_183050.4

p.S199R

c.597T>A

1 paper

NM_183050.4

p.S199S

c.597T>C

1 paper

NM_183050.4

p.S199_P200insFs

c.597_598ins4

2 papers

NM_183050.4

p.P200fs

c.598_599fs

2 papers

NM_183050.4

p.P200A

c.598C>G

7 papers

NM_183050.4

p.S199R

c.595A>C

1 paper

NM_183050.4

p.S199delFs

c.596_597delGT

4 papers

NM_183050.4

p.P200L

c.599C>T

6 papers

NM_183050.4

p.Q198L

c.593A>T

1 paper

NM_183050.4

p.Q198*

c.592C>T

16 papers

NM_183050.4

p.S199delFs

c.595_596delAG

1 paper

NM_183050.4

p.Q198delFs

c.592_593delCA