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.S250C

c.748A>T

Surrounding Variants

11 papers

NM_000543.5

p.S250R

c.748A>C

1 paper

NM_000543.5

p.S250insFs

c.750dupC

1 paper

NM_000543.5

p.S250_L256delFs

c.748_766del19

11 papers

NM_000543.5

p.S250R

c.750C>A

11 papers

NM_000543.5

p.S250R

c.750C>G

1 paper

NM_000543.5

p.K251E

c.751A>G

1 paper

NM_000543.5

p.K251fs

c.751_752fs

10 papers

NM_000543.5

p.E248K

c.742G>A

3 papers

NM_000543.5

p.E248Q

c.742G>C

1 paper

NM_000543.5

p.E248Fs

c.742delinsGCFs

5 papers

NM_000543.5

p.E248*

c.742G>T

2 papers

NM_000543.5

p.C252S

c.754T>A