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

4 papers

NM_000543.5

p.Y315*

c.945C>G

Surrounding Variants

4 papers

NM_000543.5

p.Y315*

c.945C>A

3 papers

NM_000543.5

p.P316S

c.946C>T

1 paper

NM_000543.5

p.P316fs

c.946_947fs

1 paper

NM_000543.5

p.P316L

c.947C>T

2 papers

NM_000543.5

p.Y315H

c.943T>C

2 papers

NM_000543.5

p.A317T

c.949G>A

1 paper

NM_000543.5

p.A317V

c.950C>T

9 papers

NM_000543.5

p.V314M

c.940G>A

1 paper

NM_000543.5

p.P313P

c.939A>C

1 paper

NM_000543.5

p.P313Fs

c.938_939delinsTGGTGGGFs

1 paper

NM_000543.5

p.P313delins

c.938_939delinsTGGTGGGCCAGCATGGT

1 paper

NM_000543.5

p.P313S

c.937C>T