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.L64delFs

c.191_192delTT

Surrounding Variants

2 papers

NM_000543.5

p.S65delFs

c.193delT

2 papers

NM_000543.5

p.P63L

c.188C>T

1 paper

NM_000543.5

p.L64delFs

c.190_191delCT

1 paper

NM_000543.5

p.S65fs

c.193_194fs

1 paper

NM_000543.5

p.S65F

c.194C>T

1 paper

NM_000543.5

p.Q67insFs

c.199dupC

1 paper

NM_000543.5

p.Q67K

c.199C>A

1 paper

NM_000543.5

p.Q67*

c.199C>T

1 paper

NM_000543.5

p.Q67fs

c.199_200fs

1 paper

NM_000543.5

p.Q67_G68insFs

c.201_202insAC

1 paper

NM_000543.5

p.G68insFs

c.203dupG

1 paper

NM_000543.5

p.G68delFs

c.203delG