Varaico: Literature-Extracted Genetic Variants

Gene:SMPD2
Variant:p.H124Y

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.H124Y
c.370C>T
Surrounding Variants
1 paper
NM_003080.3
p.V122fs
c.364_365fs
1 paper
NM_003080.3
p.V122delFs
c.365_366delTG
1 paper
NM_003080.3
p.L120Q
c.359T>A
1 paper
NM_003080.3
p.T135S
c.403A>T
1 paper
NM_003080.3
p.T135S
c.404C>G
1 paper
NM_003080.3
p.D111A
c.332A>C
1 paper
NM_003080.3
p.D111G
c.332A>G
1 paper
NM_003080.3
p.E92A
c.275A>C
1 paper
NM_003080.3
p.Q91_E92del1
c.272_274delAGG
1 paper
NM_003080.3
p.H138Y
c.412C>T
1 paper
NM_003080.3
p.H151N
c.451C>A
1 paper
NM_003080.3
p.H151D
c.451C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."