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

4 papers

NM_000543.5

p.E345insFs

c.1034_1035insT

Surrounding Variants

1 paper

NM_000543.5

p.E345insFs

c.1033_1034insT

2 papers

NM_000543.5

p.E345fs

c.1033_1034fs

1 paper

NM_000543.5

p.Y344*

c.1032T>A

1 paper

NM_000543.5

p.Y344*

c.1032T>G

1 paper

NM_000543.5

p.A346V

c.1037C>T

2 papers

NM_000543.5

p.L343P

c.1028T>C

1 paper

NM_000543.5

p.L343R

c.1028T>G

1 paper

NM_000543.5

p.M347R

c.1040T>G

1 paper

NM_000543.5

p.L343delFs

c.1029delC

1 paper

NM_000543.5

p.W342*

c.1026G>A

6 papers

NM_000543.5

p.W342C

c.1026G>C

1 paper

NM_000543.5

p.L343insFs

c.1027dupC