Varaico: Literature-Extracted Genetic Variants

DBT

187 papers

RefSeq Summary

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. Th...

Pfam Domains

E3_bindingaa 1–25UCSCe3 binding domain

Biotin_lipoylaa 65–138UCSCBiotin-requiring enzyme

2-oxoacid_dhaa 67–298UCSC2-oxoacid dehydrogenases acyltransferase (catalytic domain)

Gene Aliases

HGNC Name

dihydrolipoamide branched chain transacylase E2

HGNC Alias Symbols

BCOADC-E2; BCKAD-E2; BCKDH-E2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001918.5

p.S306P

c.916T>C

Surrounding Variants

1 paper

NM_001918.5

p.F307S

c.920T>C

5 papers

NM_001918.5

p.R301C

c.901C>T

1 paper

NM_001918.5

p.P296_A298delFs

c.887_894del8

2 papers

NM_001918.5

p.K313N

c.939G>T

3 papers

NM_001918.5

p.K313N

c.939G>C

1 paper

NM_001918.5

p.I297fs

c.889_890fs

1 paper

NM_001918.5

p.I297delFs

c.889delT

1 paper

NM_001918.5

p.I297V

c.889A>G

1 paper

NM_001918.5

p.R291L

c.872G>T

2 papers

NM_001918.5

p.R291*

c.871C>T

1 paper

NM_001918.5

p.L287_K289delFs

c.859_866del8

1 paper

NM_001918.5

p.L287L

c.859C>T