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.V305M

c.913G>A

Surrounding Variants

33 papers

NM_000543.5

p.L304P

c.911T>C

1 paper

NM_000543.5

p.R306G

c.916A>G

1 paper

NM_000543.5

p.A303V

c.908C>T

1 paper

NM_000543.5

p.R306S

c.918G>T

2 papers

NM_000543.5

p.A303T

c.907G>A

2 papers

NM_000543.5

p.T302I

c.905C>T

1 paper

NM_000543.5

p.K307N

c.921G>C

1 paper

NM_000543.5

p.K307N

c.921G>T

1 paper

NM_000543.5

p.F308delFs

c.923delT

1 paper

NM_000543.5

p.F308fs

c.922_923fs

2 papers

NM_000543.5

p.T302_V314del13

c.904_941del39

1 paper

NM_000543.5

p.L309_G310ins10

c.925_929ins30