Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.T97fs

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
14 papers
NM_004944.4
p.T97fs
c.289_290fs
Surrounding Variants
5 papers
NM_004944.4
p.N96K
c.288C>G
5 papers
NM_004944.4
p.N96K
c.288C>A
1 paper
NM_004944.4
p.Y98H
c.292T>C
20 papers
NM_004944.4
p.T97delFs
c.290_291delTG
1 paper
NM_004944.4
p.Q101*
c.301C>T
2 papers
NM_004944.4
p.R92R
c.276G>C
1 paper
NM_004944.4
p.R92L
c.275G>T
1 paper
NM_004944.4
p.R92Q
c.275G>A
2 papers
NM_004944.4
p.R92W
c.274C>T
1 paper
NM_004944.4
p.Y102*
c.306T>G
1 paper
NM_004944.4
p.Y102Y
c.306T>C
1 paper
NM_004944.4
p.Y102*
c.306T>A
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