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

2 papers

NM_000543.5

p.I528delFs

c.1583_1584delTA

Surrounding Variants

1 paper

NM_000543.5

p.I528fs

c.1582_1583fs

2 papers

NM_000543.5

p.A526T

c.1576G>A

1 paper

NM_000543.5

p.A526P

c.1576G>C

4 papers

NM_000543.5

p.Q525H

c.1575G>C

4 papers

NM_000543.5

p.Q525H

c.1575G>T

3 papers

NM_000543.5

p.G530A

c.1589G>C

1 paper

NM_000543.5

p.L523M

c.1567C>A

1 paper

NM_000543.5

p.N522K

c.1566T>G

8 papers

NM_000543.5

p.N522S

c.1565A>G

1 paper

NM_000543.5

p.P533S

c.1597C>T

1 paper

NM_000543.5

p.P533fs

c.1597_1598fs

4 papers

NM_000543.5

p.N522D

c.1564A>G