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.N103T

c.308A>C

Surrounding Variants

1 paper

NM_016216.4

p.N103I

c.308A>T

1 paper

NM_016216.4

p.N103K

c.309C>G

1 paper

NM_016216.4

p.N103K

c.309C>A

1 paper

NM_016216.4

p.N103Y

c.307A>T

1 paper

NM_016216.4

p.N103D

c.307A>G

1 paper

NM_016216.4

p.N103H

c.307A>C

1 paper

NM_016216.4

p.I104F

c.310A>T

1 paper

NM_016216.4

p.I104L

c.310A>C

1 paper

NM_016216.4

p.I104S

c.311T>G

1 paper

NM_016216.4

p.I104T

c.311T>C

1 paper

NM_016216.4

p.I104N

c.311T>A

1 paper

NM_016216.4

p.P102L

c.305C>T