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.T324delFs

c.970delA

Surrounding Variants

1 paper

NM_000543.5

p.T324P

c.970A>C

1 paper

NM_000543.5

p.S323fs

c.967_968fs

1 paper

NM_000543.5

p.T324I

c.971C>T

8 papers

NM_000543.5

p.P325A

c.973C>G

1 paper

NM_000543.5

p.E322*

c.964G>T

2 papers

NM_000543.5

p.H321Y

c.961C>T

1 paper

NM_000543.5

p.N320_H321insFs

c.960_961dupCC

4 papers

NM_000543.5

p.N320D

c.958A>G

1 paper

NM_000543.5

p.S328G

c.982A>G

2 papers

NM_000543.5

p.G319S

c.955G>A

6 papers

NM_000543.5

p.G319R

c.955G>C

1 paper

NM_000543.5

p.S328T

c.983G>C