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

1–12 of 450 variants

28 papers

NM_183050.4

p.R183P

c.548G>C

28 papers

NM_183050.4

p.R285*

c.853C>T

27 papers

NM_183050.4

p.G278S

c.832G>A

18 papers

NM_183050.4

p.R324*

c.970C>T

17 papers

NM_183050.4

p.A137V

c.410C>T

16 papers

NM_183050.4

p.S199delFs

c.595_596delAG

16 papers

NM_183050.4

p.G336S

c.1006G>A

15 papers

NM_183050.4

p.R111*

c.331C>T

15 papers

NM_183050.4

p.R170C

c.508C>T

14 papers

NM_183050.4

p.S339L

c.1016C>T

11 papers

NM_183050.4

p.R168C

c.502C>T

9 papers

NM_183050.4

p.L31_G34delFs

c.92_102del11