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

1 paper

NM_000543.5

p.L394_L395insFs

c.1182_1183insT

Surrounding Variants

2 papers

NM_000543.5

p.W393R

c.1177T>A

2 papers

NM_000543.5

p.W393R

c.1177T>C

24 papers

NM_000543.5

p.W393G

c.1177T>G

2 papers

NM_000543.5

p.I396I

c.1188C>T

1 paper

NM_000543.5

p.N397D

c.1189A>G

3 papers

NM_000543.5

p.N391T

c.1172A>C

2 papers

NM_000543.5

p.F392del1

c.1174_1175delTTC

3 papers

NM_000543.5

p.N391H

c.1171A>C

1 paper

NM_000543.5

p.S398F

c.1193C>T

2 papers

NM_000543.5

p.T399M

c.1196C>T

1 paper

NM_000543.5

p.E390*

c.1168G>T

1 paper

NM_000543.5

p.E390fs

c.1168_1169fs