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

4 papers

NM_005881.4

p.L389P

c.1166T>C

Surrounding Variants

1 paper

NM_005881.4

p.G391C

c.1171G>T

1 paper

NM_005881.4

p.Q387R

c.1160A>G

1 paper

NM_005881.4

p.Q387*

c.1159C>T

1 paper

NM_005881.4

p.G391G

c.1173C>T

1 paper

NM_005881.4

p.V396I

c.1186G>A

1 paper

NM_005881.4

p.L380_S388delFs

c.1140_1162del23

2 papers

NM_005881.4

p.R399W

c.1195C>T

2 papers

NM_005881.4

p.Y376*

c.1128C>A

1 paper

NM_005881.4

p.Y376*

c.1128C>G

1 paper

NM_005881.4

p.D404N

c.1210G>A

1 paper

NM_005881.4

p.S373T

c.1117T>A

1 paper

NM_005881.4

p.R406W

c.1216C>T