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.P56H

c.167C>A

Surrounding Variants

1 paper

NM_016216.4

p.A53V

c.158C>T

1 paper

NM_016216.4

p.L49V

c.145C>G

1 paper

NM_016216.4

p.D39A

c.116A>C

1 paper

NM_016216.4

p.G29W

c.85G>T

1 paper

NM_016216.4

p.A21delFs

c.61delC

4 papers

NM_016216.4

p.Y17H

c.49T>C

1 paper

NM_016216.4

p.C9Y

c.26G>A

1 paper

NM_016216.4

p.M1I

c.3G>T

1 paper

NM_016216.4

p.M1I

c.3G>C

1 paper

NM_016216.4

p.M1I

c.3G>A

4 papers

NM_016216.4

p.Y67C

c.200A>G

1 paper

NM_016216.4

p.G70G

c.210A>T