Varaico: Literature-Extracted Genetic Variants

Gene:DNASE2
Variant:p.A91P

DNASE2

62 papers

RefSeq Summary

This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two ...

Pfam Domains

DNase_IIaa 18–347UCSCDeoxyribonuclease II

Gene Aliases

HGNC Name

deoxyribonuclease 2, lysosomal

HGNC Previous Symbols

DNL; DNL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001375.3
p.A91P
c.271G>C
Surrounding Variants
1 paper
NM_001375.3
p.A91V
c.272C>T
1 paper
NM_001375.3
p.Y95F
c.284A>T
2 papers
NM_001375.3
p.Y95C
c.284A>G
2 papers
NM_001375.3
p.Y95S
c.284A>C
1 paper
NM_001375.3
p.P100H
c.299C>A
1 paper
NM_001375.3
p.D107N
c.319G>A
1 paper
NM_001375.3
p.S109S
c.327C>A
1 paper
NM_001375.3
p.R84W
c.250C>T
3 papers
NM_001375.3
p.A74del1
c.220_221delGGC
1 paper
NM_001375.3
p.V75L
c.223G>T
1 paper
NM_001375.3
p.V75L
c.223G>C
1 paper
NM_001375.3
p.A74P
c.220G>C
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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."