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

1–12 of 207 variants

8 papers

NM_016216.4

p.D541_D542del1

c.1623_1625delTCG

7 papers

NM_016216.4

p.I120T

c.359T>C

4 papers

NM_016216.4

p.Y17H

c.49T>C

4 papers

NM_016216.4

p.Y67C

c.200A>G

4 papers

NM_016216.4

p.Y181delFs

c.541_542delTA

4 papers

NM_016216.4

p.R197*

c.589C>T

4 papers

NM_016216.4

p.D542del1

c.1624_1625delATC

4 papers

NM_016216.4

p.D541_D542del2

c.1621_1625del6

2 papers

NM_016216.4

p.H85N

c.253C>A

2 papers

NM_016216.4

p.N89K

c.267T>G

2 papers

NM_016216.4

p.N89K

c.267T>A

2 papers

NM_016216.4

p.H182Y

c.544C>T