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.D22H

c.64G>C

Surrounding Variants

7 papers

NM_000543.5

p.Q21*

c.61C>T

1 paper

NM_000543.5

p.Q21fs

c.61_62fs

1 paper

NM_000543.5

p.G20_Q21ins1

c.60_61insAGC

1 paper

NM_000543.5

p.G20delFs

c.60delA

1 paper

NM_000543.5

p.G20*

c.58G>T

5 papers

NM_000543.5

p.Q19R

c.56A>G

1 paper

NM_000543.5

p.G20_Q21insFs

c.60_61ins4

1 paper

NM_000543.5

p.Q19delFs

c.56delA

1 paper

NM_000543.5

p.A25T

c.73G>A

1 paper

NM_000543.5

p.E18E

c.54G>A

7 papers

NM_000543.5

p.E18V

c.53A>T

3 papers

NM_000543.5

p.R17Q

c.50G>A