Varaico: Literature-Extracted Genetic Variants

Gene:SGMS2

SGMS2

41 papers

RefSeq Summary

Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encod...

Pfam Domains

PAP2_Caa 220–293UCSCPAP2 superfamily C-terminal

Gene Aliases

HGNC Name

sphingomyelin synthase 2

HGNC Alias Symbols

MGC26963; SMS2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
15 papers
NM_001375905.1
p.R50*
c.148C>T
9 papers
NM_001375905.1
p.I62S
c.185T>G
9 papers
NM_001375905.1
p.M64R
c.191T>G
3 papers
NM_001375905.1
p.D276A
c.827A>C
2 papers
NM_001375905.1
p.V95I
c.283G>A
2 papers
NM_001375905.1
p.E271D
c.813A>C
2 papers
NM_001375905.1
p.E271D
c.813A>T
1 paper
NM_001375905.1
p.K8K
c.24A>G
1 paper
NM_001375905.1
p.P20A
c.58C>G
1 paper
NM_001375905.1
p.R50Q
c.149G>A
1 paper
NM_001375905.1
p.I62V
c.184A>G
1 paper
NM_001375905.1
p.P65P
c.195C>A
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