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

2 papers

NM_016216.4

p.I180_H182delFs

c.538_545del8

Surrounding Variants

2 papers

NM_016216.4

p.H182Y

c.544C>T

4 papers

NM_016216.4

p.Y181delFs

c.541_542delTA

1 paper

NM_016216.4

p.I180fs

c.538_539fs

1 paper

NM_016216.4

p.S179T

c.536G>C

1 paper

NM_016216.4

p.P177P

c.531A>T

1 paper

NM_016216.4

p.D175D

c.525T>C

1 paper

NM_016216.4

p.D169insFs

c.505dupG

4 papers

NM_016216.4

p.R197*

c.589C>T

1 paper

NM_016216.4

p.A210T

c.628G>A

1 paper

NM_016216.4

p.E212*

c.634G>T

1 paper

NM_016216.4

p.H226R

c.677A>G

1 paper

NM_016216.4

p.M235I

c.705G>T