Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.D166E

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
Selected Variant
1 paper
NM_004944.4
p.D166E
c.498T>G
Surrounding Variants
1 paper
NM_004944.4
p.D166E
c.498T>A
1 paper
NM_004944.4
p.E167Q
c.499G>C
2 papers
NM_004944.4
p.E167K
c.499G>A
1 paper
NM_004944.4
p.I165M
c.495C>G
1 paper
NM_004944.4
p.V175L
c.523G>T
1 paper
NM_004944.4
p.V175L
c.523G>C
1 paper
NM_004944.4
p.T156P
c.466A>C
1 paper
NM_004944.4
p.R178C
c.532C>T
4 papers
NM_004944.4
p.R178H
c.533G>A
3 papers
NM_004944.4
p.W179*
c.536G>A
1 paper
NM_004944.4
p.L154V
c.460C>G
3 papers
NM_004944.4
p.W179*
c.537G>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."