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.H5insFs

c.13dupC

Surrounding Variants

1 paper

NM_017951.5

p.P4insFs

c.11dupC

1 paper

NM_017951.5

p.M1insFs

c.3dupG

2 papers

NM_017951.5

p.M1insFs

c.2dupT

1 paper

NM_017951.5

p.M1insFs

c.1dupA

1 paper

NM_017951.5

p.M1T

c.2T>C

1 paper

NM_017951.5

p.L59delFs

c.176_177delTA

1 paper

NM_017951.5

p.Y105_S112delFs

c.313_334del22

6 papers

NM_017951.5

p.E124*

c.370G>T

2 papers

NM_017951.5

p.P131fs

c.391_392fs

3 papers

NM_017951.5

p.S130_K136delFs

c.390_406del17

1 paper

NM_017951.5

p.H176_V177del2

c.526_530del6

1 paper

NM_017951.5

p.P210T

c.628C>A