Varaico: Literature-Extracted Genetic Variants

Gene:SMPD3
Variant:p.V131L

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.V131L
c.391G>C
Surrounding Variants
3 papers
NM_018667.4
p.L138F
c.412C>T
1 paper
NM_018667.4
p.G119E
c.356G>A
1 paper
NM_018667.4
p.A109T
c.325G>A
1 paper
NM_018667.4
p.Y95F
c.284A>T
1 paper
NM_018667.4
p.R92C
c.274C>T
2 papers
NM_018667.4
p.A182T
c.544G>A
3 papers
NM_018667.4
p.D194N
c.580G>A
1 paper
NM_018667.4
p.G195E
c.584G>A
1 paper
NM_018667.4
p.R198W
c.592C>T
1 paper
NM_018667.4
p.C59_T60del2
c.175_179del6
1 paper
NM_018667.4
p.G202R
c.604G>C
1 paper
NM_018667.4
p.G202R
c.604G>A
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