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

6 papers

NM_000543.5

p.F572L

c.1716C>A

Surrounding Variants

7 papers

NM_000543.5

p.F572L

c.1716C>G

4 papers

NM_000543.5

p.W573S

c.1718G>C

6 papers

NM_000543.5

p.F572L

c.1714T>C

1 paper

NM_000543.5

p.W573_L575del3

c.1717_1724del9

1 paper

NM_000543.5

p.F574C

c.1721T>G

1 paper

NM_000543.5

p.Q570*

c.1708C>T

1 paper

NM_000543.5

p.Q570_F572del3

c.1708_1715del9

2 papers

NM_000543.5

p.H577D

c.1729C>G

6 papers

NM_000543.5

p.H577R

c.1730A>G

1 paper

NM_000543.5

p.H577L

c.1730A>T

1 paper

NM_001007593.3

p.L567F

c.1699C>T

1 paper

NM_000543.5

p.L568_L575del8

c.1702_1724del24