Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.S91F

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.S91F
c.272C>T
Surrounding Variants
2 papers
NM_004944.4
p.R92W
c.274C>T
1 paper
NM_004944.4
p.R92L
c.275G>T
1 paper
NM_004944.4
p.R92Q
c.275G>A
1 paper
NM_004944.4
p.N86_S90del0
c.257_268del12
2 papers
NM_004944.4
p.R92R
c.276G>C
1 paper
NM_004944.4
p.S90G
c.268A>G
1 paper
NM_004944.4
p.Y87_I89del0
c.261_266del6
1 paper
NM_004944.4
p.I89N
c.266T>A
1 paper
NM_004944.4
p.V88M
c.262G>A
1 paper
NM_004944.4
p.N86K
c.258C>A
5 papers
NM_004944.4
p.N96K
c.288C>G
5 papers
NM_004944.4
p.N96K
c.288C>A
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