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

3 papers

NM_000543.5

p.H516Q

c.1548T>A

Surrounding Variants

3 papers

NM_000543.5

p.H516Q

c.1548T>G

5 papers

NM_000543.5

p.H516R

c.1547A>G

2 papers

NM_000543.5

p.H516L

c.1547A>T

1 paper

NM_000543.5

p.E517G

c.1550A>G

13 papers

NM_000543.5

p.E517V

c.1550A>T

1 paper

NM_000543.5

p.T518A

c.1552A>G

4 papers

NM_000543.5

p.T518I

c.1553C>T

5 papers

NM_000543.5

p.Y519C

c.1556A>G

1 paper

NM_000543.5

p.Y519F

c.1556A>T

1 paper

NM_000543.5

p.L514M

c.1540C>A

1 paper

NM_000543.5

p.L514delFs

c.1541delT

2 papers

NM_000543.5

p.Y519*

c.1557C>A