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.G140E

c.419G>A

Surrounding Variants

1 paper

NM_183050.4

p.V138F

c.412G>T

1 paper

NM_183050.4

p.T142T

c.426T>G

17 papers

NM_183050.4

p.A137V

c.410C>T

1 paper

NM_183050.4

p.A137fs

c.409_410fs

1 paper

NM_183050.4

p.A137insFs

c.409dupG

1 paper

NM_183050.4

p.I144T

c.431T>C

7 papers

NM_183050.4

p.G135R

c.403G>A

4 papers

NM_183050.4

p.G135R

c.403G>C

1 paper

NM_183050.4

p.G135*

c.403G>T

1 paper

NM_183050.4

p.E146Q

c.436G>C

1 paper

NM_183050.4

p.E146Fs

c.436delinsCAFs

1 paper

NM_183050.4

p.E146fs

c.436_437fs