Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.C231C

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.C231C
c.693T>C
Surrounding Variants
2 papers
NM_004944.4
p.C231Y
c.692G>A
1 paper
NM_004944.4
p.Y233C
c.698A>G
1 paper
NM_004944.4
p.T229I
c.686C>T
1 paper
NM_004944.4
p.R235W
c.703A>T
1 paper
NM_004944.4
p.R235Splc
c.704+4G>A
3 papers
NM_004944.4
p.T224M
c.671C>T
1 paper
NM_004944.4
p.D222E
c.666C>A
1 paper
NM_004944.4
p.Q220K
c.658C>A
11 papers
NM_004944.4
p.W215delFs
c.643delA
5 papers
NM_004944.4
p.W215fs
c.643_644fs
1 paper
NM_004944.4
p.T209I
c.626C>T
1 paper
NM_004944.4
p.R206R
c.618C>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."