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

7 papers

NM_016216.4

p.I120T

c.359T>C

Surrounding Variants

1 paper

NM_016216.4

p.R116Q

c.347G>A

1 paper

NM_016216.4

p.Y132F

c.395A>T

1 paper

NM_016216.4

p.G108C

c.322G>T

1 paper

NM_016216.4

p.G108S

c.322G>A

1 paper

NM_016216.4

p.K134fs

c.400_401fs

1 paper

NM_016216.4

p.K134delFs

c.402delT

1 paper

NM_016216.4

p.P141delFs

c.422delG

1 paper

NM_016216.4

p.L107F

c.321A>T

1 paper

NM_016216.4

p.L107F

c.321A>C

1 paper

NM_016216.4

p.L107S

c.320T>C

1 paper

NM_016216.4

p.L107V

c.319T>G

1 paper

NM_016216.4

p.L107I

c.319T>A