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

4 papers

NM_001918.5

p.S220L

c.659C>T

Surrounding Variants

1 paper

NM_001918.5

p.S220T

c.658T>A

1 paper

NM_001918.5

p.S220S

c.660A>G

1 paper

NM_001918.5

p.P221delFs

c.662_663delGG

1 paper

NM_001918.5

p.K222R

c.665A>G

1 paper

NM_001918.5

p.K222K

c.666A>G

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

4 papers

NM_001918.5

p.E224*

c.670G>T

1 paper

NM_001918.5

p.M226K

c.677T>A

1 paper

NM_001918.5

p.P227S

c.679C>T

1 paper

NM_001918.5

p.Q212*

c.634C>T