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.D273delFs

c.817_818delGA

Surrounding Variants

1 paper

NM_000543.5

p.F272_D273insFs

c.816_817insT

2 papers

NM_000543.5

p.P271T

c.811C>A

1 paper

NM_000543.5

p.P271_P282delFs

c.813_846del34

3 papers

NM_000543.5

p.G270S

c.808G>A

3 papers

NM_000543.5

p.A269V

c.806C>T

1 paper

NM_000543.5

p.Y276C

c.827A>G

3 papers

NM_000543.5

p.A269T

c.805G>A

2 papers

NM_000543.5

p.W277R

c.829T>A

2 papers

NM_000543.5

p.W277R

c.829T>C

1 paper

NM_000543.5

p.W277*

c.830G>A

1 paper

NM_000543.5

p.W277*

c.831G>A

2 papers

NM_000543.5

p.G279R

c.835G>A