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.T122N

c.365C>A

Surrounding Variants

1 paper

NM_183050.4

p.T122I

c.365C>T

1 paper

NM_183050.4

p.P123L

c.368C>T

1 paper

NM_183050.4

p.L124_E126del0

c.372_377del6

2 papers

NM_183050.4

p.F120fs

c.358_359fs

2 papers

NM_183050.4

p.V119G

c.356T>G

1 paper

NM_183050.4

p.V119insFs

c.356_357ins7

1 paper

NM_183050.4

p.V119insFs

c.355_356ins7

3 papers

NM_183050.4

p.V119delFs

c.357delT

3 papers

NM_183050.4

p.D117fs

c.349_350fs

4 papers

NM_183050.4

p.G128E

c.383G>A

1 paper

NM_183050.4

p.G128delFs

c.384delA

4 papers

NM_183050.4

p.K116fs

c.346_347fs