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

1 paper

NM_001918.5

p.S194*

c.581C>A

Surrounding Variants

1 paper

NM_001918.5

p.S194*

c.581C>G

1 paper

NM_001918.5

p.S194delFs

c.581_582delTG

2 papers

NM_001918.5

p.R199delFs

c.595_596delCT

1 paper

NM_001918.5

p.I200insFs

c.598dupA

1 paper

NM_001918.5

p.N185_I186Splc

c.556-1G>C

1 paper

NM_001918.5

p.D204G

c.611A>G

1 paper

NM_001918.5

p.L209F

c.627G>T

1 paper

NM_001918.5

p.L209F

c.627G>C

1 paper

NM_001918.5

p.Q212*

c.634C>T

2 papers

NM_001918.5

p.L217F

c.651G>T

2 papers

NM_001918.5

p.L217_P218insFs

c.651_652insT

2 papers

NM_001918.5

p.L217F

c.651G>C