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.L259L

c.777G>C

Surrounding Variants

1 paper

NM_000543.5

p.L259L

c.777G>A

1 paper

NM_000543.5

p.L259L

c.777G>T

3 papers

NM_000543.5

p.E260*

c.778G>T

3 papers

NM_000543.5

p.L262_A269delFs

c.785_807del23

3 papers

NM_000543.5

p.T258I

c.773C>T

2 papers

NM_001007593.3

p.L255P

c.764T>C

NM_000543.5

p.L256P

c.767T>C

3 papers

NM_000543.5

p.L256fs

c.766_767fs

1 paper

NM_000543.5

p.L256fs

c.766_767fs

6 papers

NM_000543.5

p.L263*

c.788T>A

1 paper

NM_000543.5

p.P255S

c.763C>T

1 paper

NM_000543.5

p.R257_L259del0

c.769_777del9

2 papers

NM_000543.5

p.L256insFs

c.766dupC