Varaico: Literature-Extracted Genetic Variants

Gene:SMPD4

SMPD4

44 papers

RefSeq Summary

The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular st...

Pfam Domains

mit_SMPDaseaa 1–816UCSCMitochondrial-associated sphingomyelin phosphodiesterase

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase 4

HGNC Alias Symbols

FLJ20297; FLJ20756; nSMase-3; KIAA1418; NSMASE3; NET13

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
6 papers
NM_017951.5
p.E124*
c.370G>T
3 papers
NM_017951.5
p.S130_K136delFs
c.390_406del17
3 papers
NM_017951.5
p.L231P
c.692T>C
3 papers
NM_017951.5
p.E491_E493delFs
c.1473_1479del7
3 papers
NM_017951.5
p.I696delFs
c.2088delG
3 papers
NM_017951.5
p.L708_F709delFs
c.2124_2125delAG
2 papers
NM_017951.5
p.M1insFs
c.2dupT
2 papers
NM_017951.5
p.P131fs
c.391_392fs
2 papers
NM_017951.5
p.G211G
c.633G>A
2 papers
NM_017951.5
p.V247fs
c.739_740fs
2 papers
NM_017951.5
p.V247delFs
c.740_741delCA
2 papers
NM_017951.5
p.L405L
c.1213C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."