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.A118delFs

c.354delC

Surrounding Variants

2 papers

NM_000543.5

p.A118S

c.352G>T

2 papers

NM_000543.5

p.V117A

c.350T>C

1 paper

NM_000543.5

p.I119fs

c.355_356fs

3 papers

NM_000543.5

p.V117M

c.349G>A

1 paper

NM_000543.5

p.V117_K120del4

c.349_359del12

1 paper

NM_000543.5

p.V117_L121del5

c.349_362del15

1 paper

NM_000543.5

p.L121_K126del6

c.361_377del18

1 paper

NM_000543.5

p.K120Q

c.358A>C

1 paper

NM_000543.5

p.G115S

c.343G>A

3 papers

NM_000543.5

p.L121P

c.362T>C

15 papers

NM_000543.5

p.V114M

c.340G>A

1 paper

NM_000543.5

p.N123_I127del5

c.367_380del15