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.S233F

c.698C>T

Surrounding Variants

1 paper

NM_000543.5

p.S233P

c.697T>C

1 paper

NM_000543.5

p.S233delFs

c.698delC

1 paper

NM_000543.5

p.L235_A238delFs

c.703_713del11

3 papers

NM_000543.5

p.G234D

c.701G>A

2 papers

NM_000543.5

p.G232D

c.695G>A

1 paper

NM_000543.5

p.G234insFs

c.702dupC

1 paper

NM_000543.5

p.G232R

c.694G>C

1 paper

NM_000543.5

p.G232C

c.694G>T

2 papers

NM_000543.5

p.R231Q

c.692G>A

2 papers

NM_000543.5

p.P236_W246del11

c.706_737del33

2 papers

NM_000543.5

p.R231W

c.691C>T

1 paper

NM_000543.5

p.P236T

c.706C>A