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.V98G

c.293T>G

Surrounding Variants

1 paper

NM_183050.4

p.V98A

c.293T>C

1 paper

NM_183050.4

p.D97A

c.290A>C

1 paper

NM_183050.4

p.D97V

c.290A>T

2 papers

NM_183050.4

p.D97fs

c.289_290fs

2 papers

NM_183050.4

p.E96delFs

c.287delA

2 papers

NM_183050.4

p.G101S

c.301G>A

3 papers

NM_183050.4

p.E96del1

c.286_287delGAA

1 paper

NM_183050.4

p.E96_D97delFs

c.286_289del4

1 paper

NM_183050.4

p.G101D

c.302G>A

2 papers

NM_183050.4

p.G95A

c.284G>C

4 papers

NM_183050.4

p.G102R

c.304G>A

3 papers

NM_183050.4

p.G102R

c.304G>C