Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L1
Variant:p.R28W

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.R28W
c.82C>T
Surrounding Variants
1 paper
NM_001303620.2
p.T30S
c.88A>T
1 paper
NM_001303620.2
p.L31V
c.91C>G
1 paper
NM_001303620.2
p.A32S
c.94G>T
1 paper
NM_001303620.2
p.A32T
c.94G>A
1 paper
NM_001303620.2
p.N14S
c.41A>G
1 paper
NM_001303620.2
p.A13A
c.39C>A
1 paper
NM_001303620.2
p.T5T
c.15T>A
1 paper
NM_001303620.2
p.T5I
c.14C>T
1 paper
NM_001303620.2
p.V54L
c.160G>T
1 paper
NM_001303620.2
p.V54L
c.160G>C
1 paper
NM_001303620.2
p.L55M
c.163C>A
1 paper
NM_001303620.2
p.Q56Q
c.168G>A
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