Varaico: Literature-Extracted Genetic Variants

Gene:SGMS1
Variant:p.C277S

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.C277S
c.829T>A
Surrounding Variants
1 paper
NM_147156.4
p.C277S
c.830G>C
1 paper
NM_147156.4
p.G284C
c.850G>T
1 paper
NM_147156.4
p.T286T
c.858G>A
1 paper
NM_147156.4
p.I263L
c.787A>C
1 paper
NM_147156.4
p.I296M
c.888C>G
1 paper
NM_147156.4
p.C311S
c.931T>A
1 paper
NM_147156.4
p.C311S
c.932G>C
1 paper
NM_147156.4
p.C321S
c.961T>A
1 paper
NM_147156.4
p.C321S
c.962G>C
2 papers
NM_147156.4
p.D332D
c.996C>T
1 paper
NM_147156.4
p.T413insFs
c.1238_1239insA
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