Varaico: Literature-Extracted Genetic Variants

DBR1

86 papers

RefSeq Summary

The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point o...

Pfam Domains

Metallophosaa 1–230UCSCCalcineurin-like phosphoesterase

DBR1aa 246–379UCSCLariat debranching enzyme, C-terminal domain

Gene Aliases

HGNC Name

debranching RNA lariats 1

HGNC Previous Names

debranching enzyme (S. Cerevisiae) homolog 1; debranching enzyme homolog 1 (S. cerevisiae)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016216.4

p.Y106N

c.316T>A

Surrounding Variants

1 paper

NM_016216.4

p.Y106D

c.316T>G

1 paper

NM_016216.4

p.Y106H

c.316T>C

1 paper

NM_016216.4

p.Y106F

c.317A>T

1 paper

NM_016216.4

p.Y106C

c.317A>G

1 paper

NM_016216.4

p.Y106S

c.317A>C

1 paper

NM_016216.4

p.Y105F

c.314A>T

1 paper

NM_016216.4

p.Y105S

c.314A>C

1 paper

NM_016216.4

p.L107V

c.319T>G

1 paper

NM_016216.4

p.Y105D

c.313T>G

1 paper

NM_016216.4

p.Y105H

c.313T>C

1 paper

NM_016216.4

p.L107I

c.319T>A

1 paper

NM_016216.4

p.Y105N

c.313T>A