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.R113insFs

c.338dupG

Surrounding Variants

1 paper

NM_000543.5

p.R113C

c.337C>T

1 paper

NM_000543.5

p.V114_G115del2

c.340_344del6

1 paper

NM_000543.5

p.R113H

c.338G>A

15 papers

NM_000543.5

p.V114M

c.340G>A

1 paper

NM_000543.5

p.G115S

c.343G>A

1 paper

NM_000543.5

p.V111_G115del5

c.331_344del15

1 paper

NM_000543.5

p.N110S

c.329A>G

1 paper

NM_000543.5

p.N110delFs

c.330delT

1 paper

NM_000543.5

p.N110fs

c.328_329fs

1 paper

NM_000543.5

p.V117_K120del4

c.349_359del12

1 paper

NM_000543.5

p.V117_L121del5

c.349_362del15

3 papers

NM_000543.5

p.V117M

c.349G>A