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

2 papers

NM_001918.5

p.N13D

c.37A>G

Surrounding Variants

1 paper

NM_001918.5

p.S11N

c.32G>A

1 paper

NM_001918.5

p.S11G

c.31A>G

3 papers

NM_001918.5

p.W10*

c.30G>A

3 papers

NM_001918.5

p.W10*

c.29G>A

4 papers

NM_001918.5

p.L17_I18Splc

c.51+5G>C

1 paper

NM_001918.5

p.M6T

c.17T>C

2 papers

NM_001918.5

p.M1V

c.1A>G

1 paper

NM_001918.5

p.L17_I18Splc

c.52-1G>A

1 paper

NM_001918.5

p.V20L

c.58G>C

2 papers

NM_001918.5

p.R21fs

c.61_62fs

2 papers

NM_001918.5

p.R21delFs

c.61delG

1 paper

NM_001918.5

p.Q24R

c.71A>G