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.P191_S192del1

c.573_575delTAG

Surrounding Variants

17 papers

NM_000543.5

p.P191delFs

c.573delT

1 paper

NM_000543.5

p.P191fs

c.571_572fs

1 paper

NM_000543.5

p.S192del1

c.574_575delAGC

2 papers

NM_000543.5

p.S192fs

c.574_575fs

13 papers

NM_000543.5

p.S192fs

c.574_575fs

2 papers

NM_000543.5

p.P190L

c.569C>T

1 paper

NM_000543.5

p.P191_S192del2

c.571_575del6

4 papers

NM_000543.5

p.P194insFs

c.581dupC

3 papers

NM_000543.5

p.P194delFs

c.581delC

1 paper

NM_000543.5

p.P190T

c.568C>A

4 papers

NM_000543.5

p.P191insFs

c.572dupC

1 paper

NM_000543.5

p.K189N

c.567A>C