Varaico: Literature-Extracted Genetic Variants

Gene:SGMS2
Variant:p.F308L

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
1 paper
NM_001375905.1
p.F308L
c.922T>C
Surrounding Variants
1 paper
NM_001375905.1
p.F308L
c.924C>A
1 paper
NM_001375905.1
p.F308L
c.924C>G
1 paper
NM_001375905.1
p.V325delFs
c.973delG
1 paper
NM_001375905.1
p.C331S
c.991T>A
1 paper
NM_001375905.1
p.C331S
c.992G>C
1 paper
NM_001375905.1
p.C332S
c.994T>A
1 paper
NM_001375905.1
p.C332S
c.995G>C
1 paper
NM_001375905.1
p.C343S
c.1027T>A
1 paper
NM_001375905.1
p.C343S
c.1028G>C
1 paper
NM_001375905.1
p.C348S
c.1042T>A
1 paper
NM_001375905.1
p.C348S
c.1043G>C
1 paper
NM_001375905.1
p.Y351_G358insFs
c.1052_1074dup23
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