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

2 papers

NM_000543.5

p.L558P

c.1673T>C

Surrounding Variants

4 papers

NM_000543.5

p.V559delFs

c.1675_1676delGT

1 paper

NM_000543.5

p.N557K

c.1671C>A

1 paper

NM_000543.5

p.N557K

c.1671C>G

2 papers

NM_000543.5

p.V559I

c.1675G>A

5 papers

NM_000543.5

p.V559L

c.1675G>C

6 papers

NM_000543.5

p.V559L

c.1675G>T

3 papers

NM_000543.5

p.V559fs

c.1675_1676fs

1 paper

NM_000543.5

p.V559A

c.1676T>C

1 paper

NM_000543.5

p.V559G

c.1676T>G

1 paper

NM_000543.5

p.N557_L558insG

c.1669_1673ins3

3 papers

NM_000543.5

p.H556Y

c.1666C>T

1 paper

NM_000543.5

p.R561C

c.1681C>T