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.A42V

c.125C>T

Surrounding Variants

1 paper

NM_000543.5

p.A42G

c.125C>G

1 paper

NM_000543.5

p.A44delFs

c.130delG

1 paper

NM_000543.5

p.L41_L43delFs

c.123_127del5

1 paper

NM_000543.5

p.A44_L45delFs

c.132_133delGC

1 paper

NM_000543.5

p.A44P

c.130G>C

2 papers

NM_000543.5

p.A44V

c.131C>T

1 paper

NM_000543.5

p.A46_L49ins1

c.136_147dup12

1 paper

NM_000543.5

p.L45L

c.133C>T

1 paper

NM_000543.5

p.A40del1

c.118_119delGCG

1 paper

NM_000543.5

p.L39_A40delFs

c.117_120del4

1 paper

NM_000543.5

p.L45_A46delFs

c.135_138del4

1 paper

NM_000543.5

p.L39_L41delFs

c.117_121del5