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

2 papers

NM_000543.5

p.A195delFs

c.585delC

Surrounding Variants

1 paper

NM_000543.5

p.A195T

c.583G>A

4 papers

NM_000543.5

p.A195fs

c.583_584fs

1 paper

NM_000543.5

p.A195V

c.584C>T

4 papers

NM_000543.5

p.P194fs

c.580_581fs

1 paper

NM_000543.5

p.P196fs

c.586_587fs

1 paper

NM_000543.5

p.P193P

c.579C>T

1 paper

NM_001007593.3

p.P192fs

c.574_575fs

4 papers

NM_000543.5

p.P194insFs

c.581dupC

3 papers

NM_000543.5

p.P194delFs

c.581delC

2 papers

NM_000543.5

p.S192fs

c.574_575fs

13 papers

NM_000543.5

p.S192fs

c.574_575fs

6 papers

NM_000543.5

p.A198P

c.592G>C