Varaico: Literature-Extracted Genetic Variants

Gene:DNASE2B
Variant:p.G88*

DNASE2B

42 papers

RefSeq Summary

The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in t...

Pfam Domains

DNase_IIaa 31–360UCSCDeoxyribonuclease II

Gene Aliases

HGNC Name

deoxyribonuclease 2 beta

HGNC Alias Symbol

DLAD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021233.3
p.G88*
c.262G>T
Surrounding Variants
1 paper
NM_021233.3
p.D82_T83ins7
c.244_248ins21
1 paper
NM_021233.3
p.S100P
c.298T>C
1 paper
NM_021233.3
p.S56R
c.168T>A
1 paper
NM_021233.3
p.S56R
c.168T>G
1 paper
NM_021233.3
p.S56R
c.166A>C
1 paper
NM_021233.3
p.K54K
c.162G>A
5 papers
NM_021233.3
p.R51K
c.152G>A
1 paper
NM_021233.3
p.Y46H
c.136T>C
1 paper
NM_021233.3
p.W42R
c.124T>A
1 paper
NM_021233.3
p.W42R
c.124T>C
1 paper
NM_021233.3
p.A28insFs
c.82_83ins7
1 paper
NM_021233.3
p.A28fs
c.82_83fs
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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."