Varaico: Literature-Extracted Genetic Variants

Gene:SMPD2
Variant:p.E49A

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.E49A
c.146A>C
Surrounding Variants
1 paper
NM_003080.3
p.E49Q
c.145G>C
1 paper
NM_003080.3
p.E48E
c.144G>A
1 paper
NM_003080.3
p.S41R
c.123C>A
1 paper
NM_003080.3
p.S41R
c.123C>G
1 paper
NM_003080.3
p.S41R
c.121A>C
1 paper
NM_003080.3
p.E53Q
c.157G>C
1 paper
NM_003080.3
p.E53A
c.158A>C
1 paper
NM_003080.3
p.E53D
c.159G>C
1 paper
NM_003080.3
p.E53D
c.159G>T
1 paper
NM_003080.3
p.Q54Q
c.162G>A
1 paper
NM_003080.3
p.D55N
c.163G>A
1 paper
NM_003080.3
p.R10L
c.29G>T
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