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.G70G

c.210A>T

Surrounding Variants

4 papers

NM_016216.4

p.Y67C

c.200A>G

1 paper

NM_016216.4

p.T78M

c.233C>T

1 paper

NM_016216.4

p.F80Y

c.239T>A

1 paper

NM_016216.4

p.G82A

c.245G>C

1 paper

NM_016216.4

p.N84Y

c.250A>T

1 paper

NM_016216.4

p.N84D

c.250A>G

1 paper

NM_016216.4

p.N84H

c.250A>C

1 paper

NM_016216.4

p.N84I

c.251A>T

1 paper

NM_016216.4

p.N84S

c.251A>G

1 paper

NM_016216.4

p.N84T

c.251A>C

1 paper

NM_016216.4

p.N84K

c.252C>G

1 paper

NM_016216.4

p.N84K

c.252C>A