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.Y96C

c.287A>G

Surrounding Variants

1 paper

NM_016216.4

p.Y96F

c.287A>T

1 paper

NM_016216.4

p.Y96S

c.287A>C

1 paper

NM_016216.4

p.Y96D

c.286T>G

1 paper

NM_016216.4

p.Y96H

c.286T>C

1 paper

NM_016216.4

p.Y96N

c.286T>A

1 paper

NM_016216.4

p.G97C

c.289G>T

1 paper

NM_016216.4

p.G97R

c.289G>C

1 paper

NM_016216.4

p.G97S

c.289G>A

1 paper

NM_016216.4

p.G97V

c.290G>T

1 paper

NM_016216.4

p.G97A

c.290G>C

1 paper

NM_016216.4

p.G97D

c.290G>A

1 paper

NM_016216.4

p.P95L

c.284C>T