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_001007593.3

p.L567F

c.1699C>T

Surrounding Variants

1 paper

NM_000543.5

p.L568_L575del8

c.1702_1724del24

1 paper

NM_000543.5

p.Q570_F572del3

c.1708_1715del9

4 papers

NM_000543.5

p.Q567*

c.1699C>T

2 papers

NM_000543.5

p.M566I

c.1698G>A

2 papers

NM_000543.5

p.M566I

c.1698G>C

2 papers

NM_000543.5

p.M566I

c.1698G>T

1 paper

NM_000543.5

p.Q570*

c.1708C>T

2 papers

NM_000543.5

p.D565N

c.1693G>A

4 papers

NM_000543.5

p.D565Y

c.1693G>T

1 paper

NM_000543.5

p.G564_D565insC

c.1690_1694ins3

6 papers

NM_000543.5

p.F572L

c.1714T>C

1 paper

NM_000543.5

p.W573_L575del3

c.1717_1724del9