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.L180fs

c.538_539fs

Surrounding Variants

3 papers

NM_000543.5

p.L180fs

c.538_539fs

5 papers

NM_000543.5

p.L180delFs

c.538_539delTT

2 papers

NM_000543.5

p.P181S

c.541C>T

1 paper

NM_000543.5

p.P181L

c.542C>T

6 papers

NM_000543.5

p.I178N

c.533T>A

3 papers

NM_000543.5

p.N177Y

c.529A>T

4 papers

NM_000543.5

p.W176*

c.528G>A

3 papers

NM_000543.5

p.W176*

c.527G>A

1 paper

NM_000543.5

p.P184S

c.550C>T

6 papers

NM_000543.5

p.P184L

c.551C>T

1 paper

NM_000543.5

p.S175delFs

c.525delT

1 paper

NM_000543.5

p.S175P

c.523T>C