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.H85N

c.253C>A

Surrounding Variants

1 paper

NM_016216.4

p.H85Y

c.253C>T

1 paper

NM_016216.4

p.H85D

c.253C>G

1 paper

NM_016216.4

p.N84K

c.252C>G

1 paper

NM_016216.4

p.N84K

c.252C>A

1 paper

NM_016216.4

p.H85L

c.254A>T

1 paper

NM_016216.4

p.H85R

c.254A>G

1 paper

NM_016216.4

p.H85P

c.254A>C

1 paper

NM_016216.4

p.H85Q

c.255T>G

1 paper

NM_016216.4

p.H85Q

c.255T>A

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