Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.L154V

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.L154V
c.460C>G
Surrounding Variants
1 paper
NM_004944.4
p.T156P
c.466A>C
1 paper
NM_004944.4
p.I152L
c.454A>C
1 paper
NM_004944.4
p.I151V
c.451A>G
2 papers
NM_004944.4
p.V150M
c.448G>A
1 paper
NM_004944.4
p.K147N
c.441A>T
1 paper
NM_004944.4
p.V146V
c.438C>T
1 paper
NM_004944.4
p.V146I
c.436G>A
1 paper
NM_004944.4
p.I165M
c.495C>G
1 paper
NM_004944.4
p.D166E
c.498T>G
1 paper
NM_004944.4
p.D166E
c.498T>A
1 paper
NM_004944.4
p.E167Q
c.499G>C
2 papers
NM_004944.4
p.E167K
c.499G>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."