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

2 papers

NM_183050.4

p.Y195C

c.584A>G

Surrounding Variants

1 paper

NM_183050.4

p.H196L

c.587A>T

2 papers

NM_183050.4

p.L194R

c.581T>G

7 papers

NM_183050.4

p.L194F

c.580C>T

1 paper

NM_183050.4

p.Q198delFs

c.592_593delCA

1 paper

NM_183050.4

p.Q198_A205delFs

c.592_613del22

1 paper

NM_183050.4

p.Q198*

c.592C>T

16 papers

NM_183050.4

p.S199delFs

c.595_596delAG

6 papers

NM_183050.4

p.Q198L

c.593A>T

2 papers

NM_183050.4

p.G192R

c.574G>A

2 papers

NM_183050.4

p.G192R

c.574G>C

7 papers

NM_183050.4

p.S199R

c.595A>C

1 paper

NM_183050.4

p.S199delFs

c.596_597delGT