Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L1
Variant:p.V122I

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
6 papers
NM_001303620.2
p.V122I
c.364G>A
Surrounding Variants
1 paper
NM_001303620.2
p.V122V
c.366C>A
1 paper
NM_001303620.2
p.V115M
c.343G>A
1 paper
NM_001303620.2
p.S133C
c.398C>G
1 paper
NM_001303620.2
p.Q109Q
c.327G>A
1 paper
NM_001303620.2
p.Q109E
c.325C>G
1 paper
NM_001303620.2
p.Y162F
c.485A>T
3 papers
NM_001303620.2
p.Q170H
c.510G>T
3 papers
NM_001303620.2
p.Q170H
c.510G>C
1 paper
NM_001303620.2
p.R194C
c.580C>T
1 paper
NM_001303620.2
p.R194H
c.581G>A
1 paper
NM_001303620.2
p.E199D
c.597G>T
1 paper
NM_001303620.2
p.E199D
c.597G>C
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