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.L204V

c.610C>G

Surrounding Variants

4 papers

NM_000543.5

p.R202H

c.605G>A

4 papers

NM_000543.5

p.R202C

c.604C>T

1 paper

NM_000543.5

p.L206F

c.616C>T

1 paper

NM_000543.5

p.L206_T207delFs

c.618_619delCA

1 paper

NM_000543.5

p.S201N

c.602G>A

1 paper

NM_000543.5

p.S201_R202insAC

c.601_605ins6

1 paper

NM_000543.5

p.S201C

c.601A>T

1 paper

NM_000543.5

p.T207N

c.620C>A

1 paper

NM_000543.5

p.D208delFs

c.622delG

2 papers

NM_000543.5

p.L209delFs

c.625delC

1 paper

NM_000543.5

p.P199L

c.596C>T

1 paper

NM_000543.5

p.L209L

c.625C>T