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

15 papers

NM_183050.4

p.R111*

c.331C>T

Surrounding Variants

1 paper

NM_183050.4

p.R111delFs

c.332delG

1 paper

NM_183050.4

p.R111fs

c.331_332fs

1 paper

NM_183050.4

p.L110S

c.329T>C

1 paper

NM_183050.4

p.G109G

c.327C>A

2 papers

NM_183050.4

p.G109delFs

c.326delG

2 papers

NM_183050.4

p.Y114*

c.342T>A

2 papers

NM_183050.4

p.Y114*

c.342T>G

2 papers

NM_183050.4

p.G115Splc

c.343+2T>G

2 papers

NM_183050.4

p.V103A

c.308T>C

1 paper

NM_183050.4

p.G102delFs

c.306delA

4 papers

NM_183050.4

p.G102R

c.304G>A

3 papers

NM_183050.4

p.G102R

c.304G>C