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.E86D

c.258A>C

Surrounding Variants

1 paper

NM_016216.4

p.E86D

c.258A>T

1 paper

NM_016216.4

p.A87S

c.259G>T

1 paper

NM_016216.4

p.A87P

c.259G>C

1 paper

NM_016216.4

p.A87T

c.259G>A

1 paper

NM_016216.4

p.E86V

c.257A>T

1 paper

NM_016216.4

p.E86G

c.257A>G

1 paper

NM_016216.4

p.E86A

c.257A>C

1 paper

NM_016216.4

p.E86Q

c.256G>C

1 paper

NM_016216.4

p.E86K

c.256G>A

1 paper

NM_016216.4

p.A87V

c.260C>T

1 paper

NM_016216.4

p.A87G

c.260C>G

1 paper

NM_016216.4

p.A87D

c.260C>A