Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L2
Variant:p.D278V

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.D278V
c.833A>T
Surrounding Variants
1 paper
NM_001374.3
p.Q279fs
c.835_836fs
1 paper
NM_001374.3
p.Q279E
c.835C>G
2 papers
NM_001374.3
p.E274K
c.820G>A
1 paper
NM_001374.3
p.Q272fs
c.814_815fs
1 paper
NM_001374.3
p.F271V
c.811T>G
2 papers
NM_001374.3
p.V268M
c.802G>A
1 paper
NM_001374.3
p.Q264fs
c.790_791fs
1 paper
NM_001374.3
p.Q264delFs
c.790delC
1 paper
NM_001374.3
p.R259W
c.775C>T
1 paper
NM_001374.3
p.R258C
c.772C>T
1 paper
NM_001374.3
p.A255fs
c.763_764fs
1 paper
NM_001374.3
p.A252G
c.755C>G
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