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.C12_P13del1

c.36_38delCCC

Surrounding Variants

1 paper

NM_000543.5

p.C12*

c.36C>A

1 paper

NM_000543.5

p.C12C

c.36C>T

1 paper

NM_000543.5

p.C12delFs

c.35delG

2 papers

NM_000543.5

p.C12_R14delFs

c.35_42del8

1 paper

NM_000543.5

p.C12_Q19insFs

c.34_56dup23

1 paper

NM_000543.5

p.R14delFs

c.41_42delGG

2 papers

NM_000543.5

p.Q10*

c.28C>T

1 paper

NM_000543.5

p.S15delFs

c.44delC

1 paper

NM_000543.5

p.S15Y

c.44C>A

1 paper

NM_000543.5

p.L8H

c.23T>A

1 paper

NM_000543.5

p.G16G

c.48C>T

3 papers

NM_000543.5

p.R17Q

c.50G>A