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.G587R

c.1759G>C

Surrounding Variants

1 paper

NM_000543.5

p.G587S

c.1759G>A

2 papers

NM_000543.5

p.C586W

c.1758T>G

1 paper

NM_000543.5

p.C586_C596delFs

c.1758_1786del29

1 paper

NM_000543.5

p.T588fs

c.1762_1763fs

1 paper

NM_000543.5

p.T588K

c.1763C>A

4 papers

NM_000543.5

p.T588M

c.1763C>T

1 paper

NM_000543.5

p.P585delFs

c.1755delC

2 papers

NM_000543.5

p.S583S

c.1749G>A

1 paper

NM_000543.5

p.S583L

c.1748C>T

18 papers

NM_000543.5

p.R591C

c.1771C>T

5 papers

NM_000543.5

p.R591H

c.1772G>A

1 paper

NM_000543.5

p.P582T

c.1744C>A