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.R563W

c.1687C>T

Surrounding Variants

2 papers

NM_000543.5

p.M562_R563insC

c.1684_1688ins3

1 paper

NM_000543.5

p.G564_D565insC

c.1690_1694ins3

1 paper

NM_000543.5

p.R561H

c.1682G>A

1 paper

NM_000543.5

p.R561C

c.1681C>T

2 papers

NM_000543.5

p.D565N

c.1693G>A

4 papers

NM_000543.5

p.D565Y

c.1693G>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.V559A

c.1676T>C

1 paper

NM_000543.5

p.V559G

c.1676T>G

4 papers

NM_000543.5

p.Q567*

c.1699C>T