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.T367A

c.1099A>G

Surrounding Variants

1 paper

NM_016216.4

p.E369*

c.1105G>T

1 paper

NM_016216.4

p.N364S

c.1091A>G

1 paper

NM_016216.4

p.A372_G375delFs

c.1115_1125del11

1 paper

NM_016216.4

p.I377T

c.1130T>C

1 paper

NM_016216.4

p.D349G

c.1046A>G

1 paper

NM_016216.4

p.C339C

c.1017T>C

1 paper

NM_016216.4

p.E329Q

c.985G>C

1 paper

NM_016216.4

p.R314G

c.940A>G

2 papers

NM_016216.4

p.E428Q

c.1282G>C

1 paper

NM_016216.4

p.G446D

c.1337G>A

2 papers

NM_016216.4

p.S451L

c.1352C>T

1 paper

NM_016216.4

p.D456Y

c.1366G>T