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.I253fs

c.757_758fs

Surrounding Variants

1 paper

NM_183050.4

p.P252_I253delFs

c.756_759del4

1 paper

NM_183050.4

p.P252S

c.754C>T

1 paper

NM_183050.4

p.P252_E254delFs

c.754_760del7

6 papers

NM_183050.4

p.V251A

c.752T>C

1 paper

NM_183050.4

p.V251L

c.751G>C

1 paper

NM_183050.4

p.E250*

c.748G>T

1 paper

NM_183050.4

p.Y256S

c.767A>C

7 papers

NM_183050.4

p.Y256C

c.767A>G

1 paper

NM_183050.4

p.Y256delFs

c.768delC

1 paper

NM_183050.4

p.E249_I258del0

c.747_773del27

4 papers

NM_183050.4

p.Y256*

c.768C>A

4 papers

NM_183050.4

p.Y256*

c.768C>G