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

1–12 of 206 variants

14 papers

NM_001918.5

p.S384G

c.1150A>G

10 papers

NM_001918.5

p.T25_C26delFs

c.75_76delAT

8 papers

NM_001918.5

p.R431*

c.1291C>T

7 papers

NM_001918.5

p.F276C

c.827T>G

5 papers

NM_001918.5

p.R301C

c.901C>T

5 papers

NM_001918.5

p.R462P

c.1385G>C

4 papers

NM_001918.5

p.L17_I18Splc

c.51+5G>C

4 papers

NM_001918.5

p.W84C

c.252G>T

4 papers

NM_001918.5

p.W84C

c.252G>C

4 papers

NM_001918.5

p.S220L

c.659C>T

4 papers

NM_001918.5

p.E224*

c.670G>T

4 papers

NM_001918.5

p.K427_A428Splc

c.1281+1G>T