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.I413T

c.1238T>C

Surrounding Variants

3 papers

NM_001918.5

p.V412M

c.1234G>A

1 paper

NM_001918.5

p.P411Q

c.1232C>A

2 papers

NM_001918.5

p.E417V

c.1250A>T

1 paper

NM_001918.5

p.T407insFs

c.1219dupA

2 papers

NM_001918.5

p.G406D

c.1217G>A

2 papers

NM_001918.5

p.G421W

c.1261G>T

1 paper

NM_001918.5

p.A422S

c.1264G>T

2 papers

NM_001918.5

p.A422fs

c.1264_1265fs

3 papers

NM_001918.5

p.A422insFs

c.1264dupG

1 paper

NM_001918.5

p.S403_I404Splc

c.1210-1G>C

1 paper

NM_001918.5

p.L423R

c.1268T>G

2 papers

NM_001918.5

p.L423P

c.1268T>C