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.C223S

c.667T>A

Surrounding Variants

2 papers

NM_000543.5

p.C223R

c.667T>C

2 papers

NM_000543.5

p.C223G

c.667T>G

1 paper

NM_000543.5

p.C223Y

c.668G>A

2 papers

NM_000543.5

p.C223S

c.668G>C

1 paper

NM_000543.5

p.D222N

c.664G>A

1 paper

NM_000543.5

p.D222_A224del3

c.664_671del9

1 paper

NM_000543.5

p.P221T

c.661C>A

1 paper

NM_000543.5

p.P226S

c.676C>T

3 papers

NM_000543.5

p.P226Q

c.677C>A

3 papers

NM_000543.5

p.P226R

c.677C>G

2 papers

NM_000543.5

p.T219M

c.656C>T

1 paper

NM_000543.5

p.D220delFs

c.658delG