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.H288D

c.862C>G

Surrounding Variants

1 paper

NM_000543.5

p.T290A

c.868A>G

1 paper

NM_000543.5

p.T290N

c.869C>A

1 paper

NM_000543.5

p.D285A

c.854A>C

1 paper

NM_000543.5

p.R291_Q292insC

c.871_875ins3

2 papers

NM_000543.5

p.R291G

c.871C>G

13 papers

NM_000543.5

p.R291H

c.872G>A

2 papers

NM_000543.5

p.R291P

c.872G>C

1 paper

NM_000543.5

p.H284delFs

c.852delT

1 paper

NM_000543.5

p.H284_D285delFs

c.852_855del4

26 papers

NM_000543.5

p.Q292K

c.874C>A

1 paper

NM_000543.5

p.H284Y

c.850C>T

1 paper

NM_000543.5

p.Q292*

c.874C>T