Varaico: Literature-Extracted Genetic Variants

Gene:SMPD3
Variant:p.H639P

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
2 papers
NM_018667.4
p.H639P
c.1916A>C
Surrounding Variants
1 paper
NM_018667.4
p.D638A
c.1913A>C
1 paper
NM_018667.4
p.E654A
c.1961A>C
1 paper
NM_018667.4
p.C617F
c.1850G>T
1 paper
NM_018667.4
p.C617S
c.1850G>C
1 paper
NM_018667.4
p.C617Y
c.1850G>A
1 paper
NM_018667.4
p.C617S
c.1849T>A
1 paper
NM_018667.4
p.D607N
c.1819G>A
1 paper
NM_018667.4
p.R579K
c.1736G>A
1 paper
NM_018667.4
p.G549A
c.1646G>C
1 paper
NM_018667.4
p.P535H
c.1604C>A
1 paper
NM_018667.4
p.N515S
c.1544A>G
1 paper
NM_018667.4
p.F511L
c.1533C>G
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