Varaico: Literature-Extracted Genetic Variants

BCKDK

93 papers

RefSeq Summary

The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mit...

Pfam Domains

BCDHK_Adom3aa 69–222UCSCMitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

HATPase_caa 265–403UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

Gene Aliases

HGNC Name

branched chain keto acid dehydrogenase kinase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005881.4

p.E275Q

c.823G>C

Surrounding Variants

1 paper

NM_005881.4

p.P274A

c.820C>G

1 paper

NM_005881.4

p.K278M

c.833A>T

1 paper

NM_005881.4

p.D270A

c.809A>C

1 paper

NM_005881.4

p.R282S

c.846A>C

1 paper

NM_005881.4

p.R282S

c.846A>T

1 paper

NM_005881.4

p.R282Splc

c.846-2A>G

1 paper

NM_005881.4

p.R240C

c.718C>T

1 paper

NM_005881.4

p.M285fs

c.853_854fs

1 paper

NM_005881.4

p.M285_E286insFs

c.855_856insGA

1 paper

NM_005881.4

p.P296_V298delFs

c.887_894del8

1 paper

NM_005881.4

p.D297A

c.890A>C

1 paper

NM_005881.4

p.R239Splc

c.716+1G>A