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

3 papers

NM_183050.4

p.G66R

c.196G>A

Surrounding Variants

3 papers

NM_183050.4

p.G66R

c.196G>C

1 paper

NM_183050.4

p.G66W

c.196G>T

1 paper

NM_183050.4

p.G66Splc

c.196+5G>C

1 paper

NM_183050.4

p.E64delFs

c.191delA

2 papers

NM_183050.4

p.R63P

c.188G>C

1 paper

NM_183050.4

p.R63delins

c.188_189delinsCA

1 paper

NM_183050.4

p.P60R

c.179C>G

1 paper

NM_183050.4

p.P58insFs

c.174dupA

1 paper

NM_183050.4

p.T55T

c.165T>G

2 papers

NM_183050.4

p.T55_F56insFs

c.163_166dup4

1 paper

NM_183050.4

p.V51L

c.151G>C

1 paper

NM_183050.4

p.V51delFs

c.152delT