Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L2
Variant:p.E226K

DNASE1L2

36 papers

Pfam Domains

Exo_endo_phosaa 25–288UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

deoxyribonuclease 1 like 2

HGNC Alias Symbol

DNAS1L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001374.3
p.E226K
c.676G>A
Surrounding Variants
1 paper
NM_001374.3
p.E226fs
c.676_677fs
1 paper
NM_001374.3
p.S225T
c.674G>C
1 paper
NM_001374.3
p.R223T
c.668G>C
1 paper
NM_001374.3
p.W230S
c.689G>C
1 paper
NM_001374.3
p.W230L
c.689G>T
2 papers
NM_001374.3
p.R221H
c.662G>A
1 paper
NM_001374.3
p.W230C
c.690G>C
1 paper
NM_001374.3
p.W230C
c.690G>T
2 papers
NM_001374.3
p.L231F
c.691C>T
1 paper
NM_001374.3
p.P233_D234insC
c.697_701ins3
1 paper
NM_001374.3
p.A236P
c.706G>C
1 paper
NM_001374.3
p.V240M
c.718G>A
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