Varaico: Literature-Extracted Genetic Variants

SMPD1

599 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause o...

Pfam Domains

Metallophosaa 201–463UCSCCalcineurin-like phosphoesterase

ASMase_Caa 476–611UCSCAcid sphingomyelin phosphodiesterase C-terminal region

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase 1

HGNC Alias Symbol

ASM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000543.5

p.P332insFs

c.996dupC

Surrounding Variants

29 papers

NM_000543.5

p.P332delFs

c.996delC

7 papers

NM_000543.5

p.P330R

c.989C>G

2 papers

NM_000543.5

p.P331A

c.991C>G

1 paper

NM_000543.5

p.P331S

c.991C>T

1 paper

NM_000543.5

p.P330delFs

c.990delT

1 paper

NM_000543.5

p.P331H

c.992C>A

12 papers

NM_000543.5

p.P330fs

c.988_989fs

1 paper

NM_000543.5

p.P331R

c.992C>G

3 papers

NM_000543.5

p.P332H

c.995C>A

25 papers

NM_000543.5

p.P332R

c.995C>G

2 papers

NM_000543.5

p.P332L

c.995C>T

1 paper

NM_000543.5

p.S328T

c.983G>C