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

1–12 of 89 variants

5 papers

NM_005881.4

p.R174G

c.520C>G

4 papers

NM_005881.4

p.L389P

c.1166T>C

3 papers

NM_005881.4

p.H126Q

c.378T>A

3 papers

NM_005881.4

p.H126Q

c.378T>G

3 papers

NM_005881.4

p.R174fs

c.520_521fs

2 papers

NM_005881.4

p.R156*

c.466C>T

2 papers

NM_005881.4

p.H162Q

c.486C>A

2 papers

NM_005881.4

p.H162Q

c.486C>G

2 papers

NM_005881.4

p.T205T

c.615G>A

2 papers

NM_005881.4

p.R224P

c.671G>C

2 papers

NM_005881.4

p.E275Q

c.823G>C

2 papers

NM_005881.4

p.R327W

c.979C>T