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.L209delFs

c.625delC

Surrounding Variants

1 paper

NM_000543.5

p.L209L

c.625C>T

2 papers

NM_000543.5

p.L209fs

c.625_626fs

1 paper

NM_000543.5

p.D208delFs

c.622delG

1 paper

NM_000543.5

p.T207N

c.620C>A

1 paper

NM_000543.5

p.H210insFs

c.629dupA

1 paper

NM_000543.5

p.L206_T207delFs

c.618_619delCA

1 paper

NM_000543.5

p.L206F

c.616C>T

6 papers

NM_000543.5

p.W211R

c.631T>A

6 papers

NM_000543.5

p.W211R

c.631T>C

2 papers

NM_000543.5

p.W211*

c.632G>A

1 paper

NM_000543.5

p.W211*

c.633G>A

1 paper

NM_000543.5

p.D212H

c.634G>C