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

21 papers

NM_000543.5

p.G508R

c.1522G>C

Surrounding Variants

22 papers

NM_000543.5

p.G508R

c.1522G>A

1 paper

NM_000543.5

p.G508V

c.1523G>T

2 papers

NM_000543.5

p.G508G

c.1524G>A

1 paper

NM_000543.5

p.S507A

c.1519T>G

1 paper

NM_000543.5

p.Y506*

c.1518C>A

1 paper

NM_000543.5

p.Y506*

c.1518C>G

1 paper

NM_000543.5

p.S509N

c.1526G>A

2 papers

NM_000543.5

p.S509T

c.1526G>C

1 paper

NM_000543.5

p.S509I

c.1526G>T

2 papers

NM_000543.5

p.Y506C

c.1517A>G

7 papers

NM_000543.5

p.S510F

c.1529C>T

3 papers

NM_000543.5

p.V512M

c.1534G>A