Varaico: Literature-Extracted Genetic Variants

Gene:SMPD2
Variant:p.T259S

SMPD2

60 papers

RefSeq Summary

This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that it...

Pfam Domains

Exo_endo_phosaa 12–272UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase 2

HGNC Alias Symbols

nSMase; ISC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003080.3
p.T259S
c.775A>T
Surrounding Variants
5 papers
NM_003080.3
p.R265S
c.795G>C
5 papers
NM_003080.3
p.R265S
c.795G>T
1 paper
NM_003080.3
p.T267insFs
c.800dupC
1 paper
NM_003080.3
p.T267fs
c.799_800fs
1 paper
NM_003080.3
p.D271A
c.812A>C
1 paper
NM_003080.3
p.H272N
c.814C>A
1 paper
NM_003080.3
p.H283H
c.849C>T
1 paper
NM_003080.3
p.K229*
c.685A>T
1 paper
NM_003080.3
p.E227A
c.680A>C
2 papers
NM_003080.3
p.V223I
c.667G>A
1 paper
NM_003080.3
p.C342F
c.1025G>T
1 paper
NM_003080.3
p.A345V
c.1034C>T
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