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.A5S

c.13G>T

Surrounding Variants

1 paper

NM_183050.4

p.A7G

c.20C>G

2 papers

NM_183050.4

p.A8delins

c.22delinsGTAG

1 paper

NM_183050.4

p.A2T

c.4G>A

1 paper

NM_183050.4

p.A8Fs

c.22delinsGTFs

2 papers

NM_183050.4

p.M1I

c.3G>A

1 paper

NM_183050.4

p.M1I

c.3G>C

1 paper

NM_183050.4

p.M1I

c.3G>T

1 paper

NM_183050.4

p.W10_L11delFs

c.29_32del4

2 papers

NM_183050.4

p.M1T

c.2T>C

3 papers

NM_183050.4

p.M1L

c.1A>C

1 paper

NM_183050.4

p.M1V

c.1A>G

6 papers

NM_183050.4

p.M1L

c.1A>T