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.A48delFs

c.142delG

Surrounding Variants

1 paper

NM_000543.5

p.A46delins

c.138delinsGCTGGCT

1 paper

NM_000543.5

p.A46A

c.138G>T

1 paper

NM_000543.5

p.A48V

c.143C>T

2 papers

NM_000543.5

p.L49_S50delFs

c.147_150del4

1 paper

NM_000543.5

p.A46_L49delFs

c.138_145del8

1 paper

NM_000543.5

p.L45_A46delFs

c.135_138del4

1 paper

NM_000543.5

p.L45_L47delFs

c.135_139del5

1 paper

NM_000543.5

p.L45L

c.133C>T

1 paper

NM_000543.5

p.L49L

c.147G>A

1 paper

NM_000543.5

p.S50_S52ins1

c.149_154dup6

1 paper

NM_000543.5

p.A46_L49ins1

c.136_147dup12

3 papers

NM_000543.5

p.S50fs

c.148_149fs