Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.Y117S

DNASE1

780 papers

RefSeq Summary

This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosoma...

Pfam Domains

Exo_endo_phosaa 26–274UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

deoxyribonuclease 1

HGNC Previous Symbol

DNL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_005223.4
p.Y117S
c.350A>C
Surrounding Variants
1 paper
NM_005223.4
p.S116R
c.348C>A
1 paper
NM_005223.4
p.S116R
c.348C>G
2 papers
NM_005223.4
p.Y118F
c.353A>T
1 paper
NM_005223.4
p.S116ins5
c.347_348ins15
1 paper
NM_005223.4
p.S116R
c.346A>C
1 paper
NM_005223.4
p.Y119H
c.355T>C
1 paper
NM_005223.4
p.Y119C
c.356A>G
2 papers
NM_005223.4
p.D120del1
c.358_360delGAT
1 paper
NM_005223.4
p.D115H
c.343G>C
5 papers
NM_005223.4
p.D120N
c.358G>A
1 paper
NM_005223.4
p.D120V
c.359A>T
3 papers
NM_005223.4
p.V114M
c.340G>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."