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

14 papers

NM_001918.5

p.S384G

c.1150A>G

Surrounding Variants

1 paper

NM_001918.5

p.L380W

c.1139T>G

3 papers

NM_001918.5

p.Q378*

c.1132C>T

1 paper

NM_001918.5

p.T372_L377del6

c.1114_1130del18

2 papers

NM_001918.5

p.D390G

c.1169A>G

2 papers

NM_001918.5

p.R376C

c.1126C>T

1 paper

NM_001918.5

p.T392A

c.1174A>G

2 papers

NM_001918.5

p.T392P

c.1174A>C

2 papers

NM_001918.5

p.T397I

c.1190C>T

1 paper

NM_001918.5

p.L398F

c.1192C>T

1 paper

NM_001918.5

p.L398P

c.1193T>C

1 paper

NM_001918.5

p.S399A

c.1195T>G

2 papers

NM_001918.5

p.S399P

c.1195T>C