Varaico: Literature-Extracted Genetic Variants

Gene:SGMS1

SGMS1

37 papers

RefSeq Summary

The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008].

Pfam Domains

PAP2_Caa 276–349UCSCPAP2 superfamily C-terminal

Gene Aliases

HGNC Name

sphingomyelin synthase 1

HGNC Alias Symbols

MGC17342; SMS1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
2 papers
NM_147156.4
p.D332D
c.996C>T
1 paper
NM_147156.4
p.Y24*
c.72C>G
1 paper
NM_147156.4
p.Y24*
c.72C>A
1 paper
NM_147156.4
p.C25S
c.73T>A
1 paper
NM_147156.4
p.C25S
c.74G>C
1 paper
NM_147156.4
p.G33S
c.97G>A
1 paper
NM_147156.4
p.P48delFs
c.144delG
1 paper
NM_147156.4
p.L49fs
c.145_146fs
1 paper
NM_147156.4
p.C50S
c.148T>A
1 paper
NM_147156.4
p.C50S
c.149G>C
1 paper
NM_147156.4
p.N56N
c.168T>C
1 paper
NM_147156.4
p.G57insFs
c.171dupG
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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."