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.M263_K265del3

c.787_794del9

Surrounding Variants

1 paper

NM_001918.5

p.A270S

c.808G>T

1 paper

NM_001918.5

p.P274T

c.820C>A

1 paper

NM_001918.5

p.G258fs

c.772_773fs

1 paper

NM_001918.5

p.A270_P274delFs

c.808_821del14

1 paper

NM_001918.5

p.G258Splc

c.773-1G>T

2 papers

NM_001918.5

p.G258Splc

c.773-2A>G

7 papers

NM_001918.5

p.F276C

c.827T>G

1 paper

NM_001918.5

p.F276Y

c.827T>A

1 paper

NM_001918.5

p.C279ins1

c.836_837insCAC

1 paper

NM_001918.5

p.Y278_C279ins0

c.834_836dupTTG

1 paper

NM_001918.5

p.D280E

c.840T>G

1 paper

NM_001918.5

p.E286A

c.857A>C