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.G265R

c.793G>A

Surrounding Variants

1 paper

NM_000543.5

p.G265R

c.793G>C

1 paper

NM_000543.5

p.G265A

c.794G>C

1 paper

NM_000543.5

p.G265delFs

c.795delG

1 paper

NM_000543.5

p.L266V

c.796C>G

1 paper

NM_000543.5

p.L266fs

c.796_797fs

1 paper

NM_000543.5

p.L266P

c.797T>C

6 papers

NM_000543.5

p.L263*

c.788T>A

3 papers

NM_000543.5

p.A269T

c.805G>A

3 papers

NM_000543.5

p.A269V

c.806C>T

3 papers

NM_000543.5

p.L262_A269delFs

c.785_807del23

3 papers

NM_000543.5

p.G270S

c.808G>A

3 papers

NM_000543.5

p.E260*

c.778G>T