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.D315Y

c.943G>T

Surrounding Variants

1 paper

NM_005881.4

p.G317S

c.949G>A

2 papers

NM_005881.4

p.R327W

c.979C>T

1 paper

NM_005881.4

p.D330N

c.988G>A

2 papers

NM_005881.4

p.F333_T334del1

c.999_1001delCAC

2 papers

NM_005881.4

p.T334del1

c.1000_1001delACT

1 paper

NM_005881.4

p.S346_M354del9

c.1036_1061del27

1 paper

NM_005881.4

p.L352P

c.1055T>C

1 paper

NM_005881.4

p.G365Splc

c.1095-1G>A

1 paper

NM_005881.4

p.G367D

c.1100G>A

1 paper

NM_005881.4

p.G369E

c.1106G>A

1 paper

NM_005881.4

p.T372R

c.1115C>G

1 paper

NM_005881.4

p.S373T

c.1117T>A