Varaico: Literature-Extracted Genetic Variants

Gene:SMPD3
Variant:p.D450G

SMPD3

59 papers

Pfam Domains

Exo_endo_phosaa 327–639UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase 3

HGNC Alias Symbol

NSMASE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018667.4
p.D450G
c.1349A>G
Surrounding Variants
2 papers
NM_018667.4
p.V454I
c.1360G>A
1 paper
NM_018667.4
p.R487R
c.1461A>C
1 paper
NM_018667.4
p.E499Q
c.1495G>C
1 paper
NM_018667.4
p.E499G
c.1496A>G
2 papers
NM_018667.4
p.V507I
c.1519G>A
1 paper
NM_018667.4
p.F511L
c.1531T>C
1 paper
NM_018667.4
p.F511L
c.1533C>G
1 paper
NM_018667.4
p.F511L
c.1533C>A
1 paper
NM_018667.4
p.N515S
c.1544A>G
1 paper
NM_018667.4
p.P535H
c.1604C>A
1 paper
NM_018667.4
p.G549A
c.1646G>C
1 paper
NM_018667.4
p.R579K
c.1736G>A
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