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

1–12 of 1113 variants

75 papers

NM_000543.5

p.R610del1

c.1828_1829delCGC

37 papers

NM_000543.5

p.R498L

c.1493G>T

33 papers

NM_000543.5

p.L304P

c.911T>C

29 papers

NM_000543.5

p.P332delFs

c.996delC

26 papers

NM_000543.5

p.Q292K

c.874C>A

26 papers

NM_000543.5

p.Q294K

c.880C>A

25 papers

NM_000543.5

p.W32*

c.96G>A

25 papers

NM_000543.5

p.P332R

c.995C>G

24 papers

NM_000543.5

p.W393G

c.1177T>G

23 papers

NM_000543.5

p.W32*

c.95G>A

22 papers

NM_000543.5

p.G508R

c.1522G>A

22 papers

NM_000543.5

p.P533L

c.1598C>T