Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_017951.5

p.L231fs

c.691_692fs

Surrounding Variants

1 paper

NM_017951.5

p.L231insFs

c.691_692insA

3 papers

NM_017951.5

p.L231P

c.692T>C

1 paper

NM_017951.5

p.H233delFs

c.697delG

1 paper

NM_017951.5

p.L236F

c.706C>T

2 papers

NM_017951.5

p.V247fs

c.739_740fs

2 papers

NM_017951.5

p.V247delFs

c.740_741delCA

1 paper

NM_017951.5

p.E268G

c.803A>G

1 paper

NM_017951.5

p.H286delFs

c.857_858delAT

1 paper

NM_017951.5

p.P217L

c.650C>T

2 papers

NM_017951.5

p.G211G

c.633G>A

1 paper

NM_017951.5

p.P210T

c.628C>A

1 paper

NM_017951.5

p.H176_V177del2

c.526_530del6