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.M144R

c.431T>G

Surrounding Variants

1 paper

NM_000543.5

p.V145del1

c.433_434delGTG

2 papers

NM_000543.5

p.V145M

c.433G>A

1 paper

NM_000543.5

p.V145E

c.434T>A

1 paper

NM_000543.5

p.D142N

c.424G>A

1 paper

NM_000543.5

p.V147V

c.441G>A

2 papers

NM_000543.5

p.F140L

c.420T>A

1 paper

NM_000543.5

p.W148R

c.442T>A

2 papers

NM_000543.5

p.W148R

c.442T>C

2 papers

NM_000543.5

p.F140L

c.420T>G

1 paper

NM_000543.5

p.W148delFs

c.444delG

2 papers

NM_000543.5

p.F140L

c.418T>C

1 paper

NM_000543.5

p.R149delFs

c.446delG