Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L1
Variant:p.D227A

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
3 papers
NM_001303620.2
p.D227A
c.680A>C
Surrounding Variants
1 paper
NM_001303620.2
p.Y226_L231delFs
c.678_691del14
1 paper
NM_001303620.2
p.S221N
c.662G>A
1 paper
NM_001303620.2
p.T217I
c.650C>T
1 paper
NM_001303620.2
p.T217S
c.649A>T
1 paper
NM_001303620.2
p.E214G
c.641A>G
1 paper
NM_001303620.2
p.H241R
c.722A>G
1 paper
NM_001303620.2
p.T242fs
c.724_725fs
1 paper
NM_001303620.2
p.E203E
c.609G>A
1 paper
NM_001303620.2
p.E199D
c.597G>T
1 paper
NM_001303620.2
p.E199D
c.597G>C
1 paper
NM_001303620.2
p.R194H
c.581G>A
1 paper
NM_001303620.2
p.E258_A259Splc
c.774+6G>A
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