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

1 paper

NM_005881.4

p.R177L

c.530G>T

Surrounding Variants

1 paper

NM_005881.4

p.R177W

c.529C>T

5 papers

NM_005881.4

p.R174G

c.520C>G

3 papers

NM_005881.4

p.R174fs

c.520_521fs

1 paper

NM_005881.4

p.R174_E181delFs

c.521_543del23

1 paper

NM_005881.4

p.V166M

c.496G>A

2 papers

NM_005881.4

p.H162Q

c.486C>A

2 papers

NM_005881.4

p.H162Q

c.486C>G

1 paper

NM_005881.4

p.D161D

c.483C>T

1 paper

NM_005881.4

p.D160_D161insTT

c.478_482ins6

2 papers

NM_005881.4

p.R156*

c.466C>T

1 paper

NM_005881.4

p.V186I

c.556G>A

1 paper

NM_005881.4

p.L190*

c.569T>A