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.N89S

c.266A>G

Surrounding Variants

1 paper

NM_016216.4

p.N89I

c.266A>T

1 paper

NM_016216.4

p.N89T

c.266A>C

2 papers

NM_016216.4

p.N89K

c.267T>G

2 papers

NM_016216.4

p.N89K

c.267T>A

1 paper

NM_016216.4

p.N89Y

c.265A>T

1 paper

NM_016216.4

p.N89H

c.265A>C

1 paper

NM_016216.4

p.H90Y

c.268C>T

1 paper

NM_016216.4

p.H90D

c.268C>G

1 paper

NM_016216.4

p.H90N

c.268C>A

1 paper

NM_016216.4

p.S88L

c.263C>T

1 paper

NM_016216.4

p.H90L

c.269A>T

1 paper

NM_016216.4

p.H90R

c.269A>G