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.E248Fs

c.742delinsGCFs

Surrounding Variants

10 papers

NM_000543.5

p.E248K

c.742G>A

3 papers

NM_000543.5

p.E248Q

c.742G>C

5 papers

NM_000543.5

p.E248*

c.742G>T

1 paper

NM_000543.5

p.G247_E248delins

c.741_742delinsGC

6 papers

NM_000543.5

p.G247D

c.740G>A

18 papers

NM_000543.5

p.G247S

c.739G>A

NM_001007593.3

p.G246S

c.736G>A

1 paper

NM_000543.5

p.G247R

c.739G>C

5 papers

NM_000543.5

p.G247fs

c.739_740fs

1 paper

NM_000543.5

p.S250_L256delFs

c.748_766del19

1 paper

NM_000543.5

p.W246*

c.738G>A

2 papers

NM_000543.5

p.W246C

c.738G>C

2 papers

NM_000543.5

p.W246C

c.738G>T