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.K578N

c.1734G>C

Surrounding Variants

4 papers

NM_000543.5

p.K578N

c.1734G>T

4 papers

NM_000543.5

p.G579S

c.1735G>A

6 papers

NM_000543.5

p.H577R

c.1730A>G

1 paper

NM_000543.5

p.H577L

c.1730A>T

2 papers

NM_000543.5

p.H577D

c.1729C>G

1 paper

NM_000543.5

p.P582T

c.1744C>A

3 papers

NM_000543.5

p.P582S

c.1744C>T

1 paper

NM_000543.5

p.F574C

c.1721T>G

1 paper

NM_000543.5

p.S583L

c.1748C>T

2 papers

NM_000543.5

p.S583S

c.1749G>A

4 papers

NM_000543.5

p.W573S

c.1718G>C

6 papers

NM_000543.5

p.F572L

c.1716C>A