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.R224P

c.671G>C

Surrounding Variants

1 paper

NM_005881.4

p.R224G

c.670C>G

1 paper

NM_005881.4

p.I231T

c.692T>C

1 paper

NM_005881.4

p.D216fs

c.646_647fs

1 paper

NM_005881.4

p.P215_D216delFs

c.644_647del4

1 paper

NM_005881.4

p.R239Splc

c.716+1G>A

1 paper

NM_005881.4

p.H206P

c.617A>C

2 papers

NM_005881.4

p.T205T

c.615G>A

1 paper

NM_005881.4

p.T193M

c.578C>T

1 paper

NM_005881.4

p.L190*

c.569T>A

1 paper

NM_005881.4

p.V186I

c.556G>A

1 paper

NM_005881.4

p.R240C

c.718C>T

1 paper

NM_005881.4

p.R177L

c.530G>T