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.P507S

c.1519C>T

Surrounding Variants

1 paper

NM_017951.5

p.P518_P519delFs

c.1552_1555del4

3 papers

NM_017951.5

p.E491_E493delFs

c.1473_1479del7

2 papers

NM_017951.5

p.L535delFs

c.1604delA

2 papers

NM_017951.5

p.E536G

c.1607A>G

1 paper

NM_017951.5

p.D605delins

c.1813delinsGTGGGTGAGGACTGACTCATCC

2 papers

NM_017951.5

p.Q609R

c.1826A>G

1 paper

NM_001171083.2

p.G422Splc

c.1264+1G>A

1 paper

NM_017951.5

p.L623delFs

c.1867delG

1 paper

NM_017951.5

p.Y625delFs

c.1874delT

1 paper

NM_017951.5

p.L478L

c.1432C>T

1 paper

NM_017951.5

p.A431fs

c.1291_1292fs

1 paper

NM_017951.5

p.W430Splc

c.1290-9G>A