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

9 papers

NM_183050.4

p.L31_G34delFs

c.92_102del11

Surrounding Variants

6 papers

NM_183050.4

p.L31_F35insFs

c.93_103dup11

1 paper

NM_183050.4

p.P27fs

c.79_80fs

1 paper

NM_183050.4

p.P27_G30delFs

c.79_89del11

1 paper

NM_183050.4

p.A29insFs

c.85_86ins4

1 paper

NM_183050.4

p.A29_A32del4

c.85_95del12

1 paper

NM_183050.4

p.A29insFs

c.86_87ins4

1 paper

NM_183050.4

p.R24H

c.71G>A

1 paper

NM_183050.4

p.L31fs

c.91_92fs

1 paper

NM_183050.4

p.H22H

c.66C>T

1 paper

NM_183050.4

p.A32delFs

c.94delG

1 paper

NM_183050.4

p.H22fs

c.64_65fs

2 papers

NM_183050.4

p.A32fs

c.94_95fs