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.A554T

c.1660G>A

Surrounding Variants

1 paper

NM_000543.5

p.A554P

c.1660G>C

1 paper

NM_000543.5

p.A554_W555insG

c.1660_1664ins3

1 paper

NM_000543.5

p.H556delFs

c.1667_1668delAC

1 paper

NM_000543.5

p.P552insFs

c.1654_1655insG

3 papers

NM_000543.5

p.H556Y

c.1666C>T

5 papers

NM_000543.5

p.L551P

c.1652T>C

1 paper

NM_000543.5

p.N557_L558insG

c.1669_1673ins3

1 paper

NM_000543.5

p.N557K

c.1671C>A

1 paper

NM_000543.5

p.N557K

c.1671C>G

1 paper

NM_000543.5

p.T550I

c.1649C>T

1 paper

NM_000543.5

p.T550A

c.1648A>G

1 paper

NM_000543.5

p.N549K

c.1647C>A