Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L1

DNASE1L1

41 papers

RefSeq Summary

This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alte...

Pfam Domains

Exo_endo_phosaa 22–265UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

deoxyribonuclease 1 like 1

HGNC Previous Symbol

DNL1L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
6 papers
NM_001303620.2
p.V122I
c.364G>A
3 papers
NM_001303620.2
p.Q170H
c.510G>T
3 papers
NM_001303620.2
p.Q170H
c.510G>C
3 papers
NM_001303620.2
p.D227A
c.680A>C
2 papers
NM_001303620.2
p.G80R
c.238G>A
1 paper
NM_001303620.2
p.T5I
c.14C>T
1 paper
NM_001303620.2
p.T5T
c.15T>A
1 paper
NM_001303620.2
p.A13A
c.39C>A
1 paper
NM_001303620.2
p.N14S
c.41A>G
1 paper
NM_001303620.2
p.R28W
c.82C>T
1 paper
NM_001303620.2
p.T30S
c.88A>T
1 paper
NM_001303620.2
p.L31V
c.91C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."