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.Y42*

c.126T>A

Surrounding Variants

1 paper

NM_001918.5

p.Y42*

c.126T>G

1 paper

NM_001918.5

p.F39insFs

c.117dupC

1 paper

NM_001918.5

p.F40I

c.118T>A

2 papers

NM_001918.5

p.F39delFs

c.117delG

2 papers

NM_001918.5

p.K46R

c.137A>G

1 paper

NM_001918.5

p.V31_P34delFs

c.92_102del11

1 paper

NM_001918.5

p.V31V

c.93T>C

1 paper

NM_001918.5

p.L54M

c.160C>A

1 paper

NM_001918.5

p.H30delFs

c.89_90delAT

1 paper

NM_001918.5

p.V29fs

c.85_86fs

2 papers

NM_001918.5

p.V29insFs

c.85_86ins4

1 paper

NM_001918.5

p.G27_N28del1

c.80_82delTAC