Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L1
Variant:p.Y95S

DNASE1L1

41 papers

RefSeq Summary

This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alte...

Pfam Domains

Exo_endo_phosaa 22–265UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

deoxyribonuclease 1 like 1

HGNC Previous Symbol

DNL1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001303620.2
p.Y95S
c.284A>C
Surrounding Variants
1 paper
NM_001303620.2
p.T98S
c.292A>T
1 paper
NM_001303620.2
p.T98A
c.292A>G
1 paper
NM_001303620.2
p.T98M
c.293C>T
1 paper
NM_001303620.2
p.F102delFs
c.306delG
1 paper
NM_001303620.2
p.P81R
c.242C>G
1 paper
NM_001303620.2
p.G80E
c.239G>A
2 papers
NM_001303620.2
p.G80R
c.238G>A
1 paper
NM_001303620.2
p.R75Q
c.224G>A
1 paper
NM_001303620.2
p.R75*
c.223C>T
1 paper
NM_001303620.2
p.R75Q
c.224G>A
1 paper
NM_001303620.2
p.R75*
c.223C>T
1 paper
NM_001303620.2
p.R71Q
c.212G>A
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