Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.S17S

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.S17S
c.51C>T
Surrounding Variants
1 paper
NM_004944.4
p.A18T
c.52G>A
2 papers
NM_004944.4
p.L19V
c.55C>G
1 paper
NM_004944.4
p.L12_L19insFs
c.34_56dup23
1 paper
NM_004944.4
p.I15I
c.45C>A
2 papers
NM_004944.4
p.A20D
c.59C>A
1 paper
NM_004944.4
p.S14Y
c.41C>A
1 paper
NM_004944.4
p.A20_M21delFs
c.60_61delTG
1 paper
NM_004944.4
p.R22K
c.65G>A
1 paper
NM_004944.4
p.L12R
c.35T>G
1 paper
NM_004944.4
p.I23V
c.67A>G
1 paper
NM_004944.4
p.I23T
c.68T>C
1 paper
NM_004944.4
p.L9V
c.25C>G
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