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.S112C

c.334A>T

Surrounding Variants

1 paper

NM_001918.5

p.R113C

c.337C>T

1 paper

NM_001918.5

p.G116R

c.346G>C

1 paper

NM_001918.5

p.G116R

c.346G>A

1 paper

NM_001918.5

p.D115_G116delFs

c.344_347del4

1 paper

NM_001918.5

p.K119insFs

c.356_357ins7

1 paper

NM_001918.5

p.K120Q

c.358A>C

1 paper

NM_001918.5

p.K120fs

c.358_359fs

1 paper

NM_001918.5

p.K120delFs

c.360delT

2 papers

NM_001918.5

p.V101I

c.301G>A

3 papers

NM_001918.5

p.N124_D126del0

c.372_377del6

2 papers

NM_001918.5

p.Q94*

c.280C>T

1 paper

NM_001918.5

p.Y130C

c.389A>G