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.P357L

c.1070C>T

Surrounding Variants

1 paper

NM_001918.5

p.P357R

c.1070C>G

1 paper

NM_001918.5

p.V356V

c.1068C>A

1 paper

NM_001918.5

p.V356insFs

c.1066_1067insT

1 paper

NM_001918.5

p.V356fs

c.1066_1067fs

1 paper

NM_001918.5

p.I344_A347del4

c.1030_1040del12

1 paper

NM_001918.5

p.G345W

c.1033G>T

1 paper

NM_001918.5

p.G345R

c.1033G>C

1 paper

NM_001918.5

p.G345R

c.1033G>A

2 papers

NM_001918.5

p.R376C

c.1126C>T

3 papers

NM_001918.5

p.Q378*

c.1132C>T

1 paper

NM_001918.5

p.T372_L377del6

c.1114_1130del18

1 paper

NM_001918.5

p.L380W

c.1139T>G