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

6 papers

NM_000543.5

p.G168R

c.502G>C

Surrounding Variants

6 papers

NM_000543.5

p.G168R

c.502G>A

3 papers

NM_000543.5

p.G168E

c.503G>A

1 paper

NM_000543.5

p.G168insFs

c.504dupG

2 papers

NM_000543.5

p.H169insFs

c.505dupC

1 paper

NM_000543.5

p.C167fs

c.499_500fs

1 paper

NM_000543.5

p.H169L

c.506A>T

3 papers

NM_000543.5

p.C167delFs

c.499delT

1 paper

NM_000543.5

p.D171delFs

c.511delG

3 papers

NM_000543.5

p.W170*

c.509G>A

1 paper

NM_000543.5

p.W170L

c.509G>T

2 papers

NM_000543.5

p.W170*

c.510G>A

1 paper

NM_000543.5

p.G164G

c.492C>G