Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3

DNASE1L3

181 papers

RefSeq Summary

This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene ...

Pfam Domains

Exo_endo_phosaa 24–274UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

deoxyribonuclease 1L3

HGNC Alias Symbols

DNAS1L3; LSD; D3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 141 variants
29 papers
NM_004944.4
p.R206C
c.616C>T
20 papers
NM_004944.4
p.T97delFs
c.290_291delTG
14 papers
NM_004944.4
p.T97fs
c.289_290fs
11 papers
NM_004944.4
p.W215delFs
c.643delA
8 papers
NM_004944.4
p.G82R
c.244G>C
5 papers
NM_004944.4
p.N96K
c.288C>G
5 papers
NM_004944.4
p.N96K
c.288C>A
5 papers
NM_004944.4
p.Y117S
c.350A>C
5 papers
NM_004944.4
p.W215fs
c.643_644fs
4 papers
NM_004944.4
p.D38H
c.112G>C
4 papers
NM_004944.4
p.R178H
c.533G>A
3 papers
NM_004944.4
p.W179*
c.536G>A
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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."