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.S242*

c.725C>A

Surrounding Variants

1 paper

NM_001918.5

p.S242*

c.725C>G

1 paper

NM_001918.5

p.S242P

c.724T>C

1 paper

NM_001918.5

p.I239V

c.715A>G

3 papers

NM_001918.5

p.P238delFs

c.713delG

1 paper

NM_001918.5

p.F247insFs

c.740_741insT

1 paper

NM_001918.5

p.T236A

c.706A>G

1 paper

NM_001918.5

p.G249G

c.747C>T

1 paper

NM_001918.5

p.K252_E254delFs

c.754_760del7

1 paper

NM_001918.5

p.P227S

c.679C>T

3 papers

NM_001918.5

p.I256delFs

c.768delT

1 paper

NM_001918.5

p.K257del1

c.769_770delTTT

1 paper

NM_001918.5

p.M226K

c.677T>A