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.E108_I119del12

c.322_356del36

Surrounding Variants

2 papers

NM_000543.5

p.E108_R113del6

c.322_338del18

1 paper

NM_000543.5

p.E108delFs

c.322delG

1 paper

NM_000543.5

p.E108insFs

c.322_323insGT

1 paper

NM_000543.5

p.E108_P109ins9

c.322_326ins27

2 papers

NM_000543.5

p.P109delFs

c.325delC

1 paper

NM_000543.5

p.P109_R113del5

c.325_338del15

1 paper

NM_000543.5

p.K106_K107Splc

c.319-1G>A

1 paper

NM_000543.5

p.K106_K107Splc

c.319-1G>C

1 paper

NM_000543.5

p.K106_K107Splc

c.319-1G>T

1 paper

NM_000543.5

p.K106_K107Splc

c.319-2A>G

1 paper

NM_000543.5

p.N110fs

c.328_329fs

1 paper

NM_000543.5

p.N110S

c.329A>G