Varaico: Literature-Extracted Genetic Variants

Gene:SMPD2
Variant:p.C342F

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.C342F
c.1025G>T
Surrounding Variants
1 paper
NM_003080.3
p.A345V
c.1034C>T
1 paper
NM_003080.3
p.A354V
c.1061C>T
1 paper
NM_003080.3
p.T359A
c.1075A>G
1 paper
NM_003080.3
p.V365_L366del2
c.1093_1097del6
1 paper
NM_003080.3
p.Y383C
c.1148A>G
1 paper
NM_003080.3
p.H283H
c.849C>T
1 paper
NM_003080.3
p.H272N
c.814C>A
1 paper
NM_003080.3
p.D271A
c.812A>C
1 paper
NM_003080.3
p.T267insFs
c.800dupC
1 paper
NM_003080.3
p.T267fs
c.799_800fs
5 papers
NM_003080.3
p.R265S
c.795G>C
5 papers
NM_003080.3
p.R265S
c.795G>T
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