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.I429N

c.1286T>A

Surrounding Variants

8 papers

NM_001918.5

p.R431*

c.1291C>T

1 paper

NM_001918.5

p.Q442*

c.1324C>T

1 paper

NM_001918.5

p.M444insFs

c.1330dupA

1 paper

NM_001918.5

p.V446M

c.1336G>A

3 papers

NM_001918.5

p.N445_V446delFs

c.1333_1336del4

1 paper

NM_001918.5

p.W448*

c.1343G>A

1 paper

NM_001918.5

p.W448*

c.1344G>A

1 paper

NM_001918.5

p.S449L

c.1346C>T

1 paper

NM_001918.5

p.A450D

c.1349C>A

2 papers

NM_001918.5

p.H452R

c.1355A>G

1 paper

NM_001918.5

p.S461*

c.1382C>G

1 paper

NM_001918.5

p.S461*

c.1382C>A