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

4 papers

NM_016216.4

p.D541_D542del2

c.1621_1625del6

Surrounding Variants

4 papers

NM_016216.4

p.D542del1

c.1624_1625delATC

8 papers

NM_016216.4

p.D541_D542del1

c.1623_1625delTCG

1 paper

NM_016216.4

p.D538_*545del8

c.1612_1634del24

1 paper

NM_016216.4

p.A531T

c.1591G>A

1 paper

NM_016216.4

p.D456Y

c.1366G>T

2 papers

NM_016216.4

p.S451L

c.1352C>T

1 paper

NM_016216.4

p.G446D

c.1337G>A

2 papers

NM_016216.4

p.E428Q

c.1282G>C

1 paper

NM_016216.4

p.I377T

c.1130T>C

1 paper

NM_016216.4

p.A372_G375delFs

c.1115_1125del11

1 paper

NM_016216.4

p.E369*

c.1105G>T

1 paper

NM_016216.4

p.T367A

c.1099A>G