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.P2delFs

c.4delC

Surrounding Variants

1 paper

NM_000543.5

p.M1I

c.3G>A

1 paper

NM_000543.5

p.M1I

c.3G>C

2 papers

NM_000543.5

p.M1K

c.2T>A

3 papers

NM_000543.5

p.M1T

c.2T>C

5 papers

NM_000543.5

p.M1R

c.2T>G

1 paper

NM_000543.5

p.M1V

c.1A>G

1 paper

NM_000543.5

p.P2L

c.5C>T

1 paper

NM_000543.5

p.R3C

c.7C>T

4 papers

NM_000543.5

p.R3fs

c.7_8fs

3 papers

NM_000543.5

p.R3H

c.8G>A

1 paper

NM_000543.5

p.Y4N

c.10T>A

1 paper

NM_000543.5

p.Y4*

c.12C>A