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

4 papers

NM_000543.5

p.E352*

c.1054G>T

Surrounding Variants

2 papers

NM_000543.5

p.E352Q

c.1054G>C

1 paper

NM_000543.5

p.E352fs

c.1054_1055fs

1 paper

NM_000543.5

p.W351*

c.1053G>A

2 papers

NM_000543.5

p.W351*

c.1052G>A

1 paper

NM_000543.5

p.W351S

c.1052G>C

1 paper

NM_000543.5

p.E352D

c.1056G>C

1 paper

NM_000543.5

p.E352D

c.1056G>T

1 paper

NM_000543.5

p.E352delFs

c.1054delG

1 paper

NM_000543.5

p.W354*

c.1061G>A

1 paper

NM_000543.5

p.W354*

c.1062G>A

2 papers

NM_000543.5

p.A357_R361delFs

c.1071_1081del11

1 paper

NM_000543.5

p.M347R

c.1040T>G