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

3 papers

NM_183050.4

p.D173Y

c.517G>T

Surrounding Variants

1 paper

NM_183050.4

p.D173N

c.517G>A

3 papers

NM_183050.4

p.G172W

c.514G>T

7 papers

NM_183050.4

p.F175L

c.523T>C

2 papers

NM_183050.4

p.S171P

c.511T>C

7 papers

NM_183050.4

p.R170H

c.509G>A

7 papers

NM_183050.4

p.F175L

c.525T>A

7 papers

NM_183050.4

p.F175L

c.525T>G

6 papers

NM_183050.4

p.N176Y

c.526A>T

1 paper

NM_183050.4

p.R170S

c.508C>A

3 papers

NM_183050.4

p.R170G

c.508C>G

15 papers

NM_183050.4

p.R170C

c.508C>T

1 paper

NM_183050.4

p.R170fs

c.508_509fs