Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.H143N

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.H143N
c.427C>A
Surrounding Variants
1 paper
NM_004944.4
p.A145S
c.433G>T
2 papers
NM_004944.4
p.A145T
c.433G>A
1 paper
NM_004944.4
p.V137I
c.409G>A
1 paper
NM_004944.4
p.V129E
c.386T>A
5 papers
NM_004944.4
p.Y117S
c.350A>C
2 papers
NM_004944.4
p.V111M
c.331G>A
1 paper
NM_004944.4
p.L110Q
c.329T>A
2 papers
NM_004944.4
p.K107Splc
c.321-1G>A
2 papers
NM_004944.4
p.K107Splc
c.320+1G>C
1 paper
NM_004944.4
p.L105I
c.313C>A
1 paper
NM_004944.4
p.F104Y
c.311T>A
1 paper
NM_004944.4
p.Y102*
c.306T>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."