Varaico: Literature-Extracted Genetic Variants

Gene:SGMS1
Variant:p.W132*

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
Selected Variant
1 paper
NM_147156.4
p.W132*
c.395G>A
Surrounding Variants
1 paper
NM_147156.4
p.W132*
c.396G>A
1 paper
NM_147156.4
p.L148P
c.443T>C
1 paper
NM_147156.4
p.T150A
c.448A>G
1 paper
NM_147156.4
p.M107I
c.321G>T
1 paper
NM_147156.4
p.M107I
c.321G>C
1 paper
NM_147156.4
p.M107I
c.321G>A
1 paper
NM_147156.4
p.E158K
c.472G>A
1 paper
NM_147156.4
p.I102T
c.305T>C
1 paper
NM_147156.4
p.K101N
c.303G>T
1 paper
NM_147156.4
p.K101N
c.303G>C
1 paper
NM_147156.4
p.D95N
c.283G>A
1 paper
NM_147156.4
p.P92S
c.274C>T
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