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.F140L

c.420T>G

Surrounding Variants

2 papers

NM_000543.5

p.F140L

c.420T>A

2 papers

NM_000543.5

p.F140L

c.418T>C

1 paper

NM_000543.5

p.L139L

c.417C>T

1 paper

NM_000543.5

p.D142N

c.424G>A

9 papers

NM_000543.5

p.L139P

c.416T>C

1 paper

NM_000543.5

p.L139I

c.415C>A

1 paper

NM_000543.5

p.H138delFs

c.413delA

1 paper

NM_000543.5

p.H138_V145del8

c.412_434del24

1 paper

NM_000543.5

p.V145del1

c.433_434delGTG

1 paper

NM_000543.5

p.H138_D143del6

c.412_428del18

1 paper

NM_000543.5

p.M144R

c.431T>G

2 papers

NM_000543.5

p.V145M

c.433G>A