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.E411*

c.1231G>T

Surrounding Variants

1 paper

NM_000543.5

p.E411fs

c.1231_1232fs

1 paper

NM_000543.5

p.E411G

c.1232A>G

1 paper

NM_000543.5

p.E411D

c.1233G>C

1 paper

NM_000543.5

p.E411D

c.1233G>T

1 paper

NM_000543.5

p.G410R

c.1228G>A

1 paper

NM_000543.5

p.G410R

c.1228G>C

1 paper

NM_000543.5

p.V409G

c.1226T>G

1 paper

NM_000543.5

p.E411delFs

c.1231delG

1 paper

NM_000543.5

p.V409M

c.1225G>A

1 paper

NM_000543.5

p.A414S

c.1240G>T

1 paper

NM_000543.5

p.W407*

c.1221G>A

1 paper

NM_000543.5

p.W407*

c.1220G>A