Varaico: Literature-Extracted Genetic Variants

Gene:SGMS2
Variant:p.E271D

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
Selected Variant
2 papers
NM_001375905.1
p.E271D
c.813A>T
Surrounding Variants
2 papers
NM_001375905.1
p.E271D
c.813A>C
3 papers
NM_001375905.1
p.D276A
c.827A>C
1 paper
NM_001375905.1
p.D276E
c.828T>A
1 paper
NM_001375905.1
p.D276E
c.828T>G
1 paper
NM_001375905.1
p.C265S
c.794G>C
1 paper
NM_001375905.1
p.C265S
c.793T>A
1 paper
NM_001375905.1
p.Y282Y
c.846T>C
1 paper
NM_001375905.1
p.C255S
c.764G>C
1 paper
NM_001375905.1
p.C255S
c.763T>A
1 paper
NM_001375905.1
p.F308L
c.922T>C
1 paper
NM_001375905.1
p.F308L
c.924C>A
1 paper
NM_001375905.1
p.F308L
c.924C>G
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