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.A243_G247delFs

c.727_740del14

Surrounding Variants

2 papers

NM_000543.5

p.G242D

c.725G>A

2 papers

NM_000543.5

p.A243V

c.728C>T

3 papers

NM_000543.5

p.G242S

c.724G>A

6 papers

NM_000543.5

p.G242R

c.724G>C

1 paper

NM_000543.5

p.A243_G244insFs

c.729_730insTT

1 paper

NM_000543.5

p.A243A

c.729C>T

7 papers

NM_000543.5

p.G244R

c.730G>A

7 papers

NM_000543.5

p.G244R

c.730G>C

2 papers

NM_000543.5

p.G244*

c.730G>T

1 paper

NM_000543.5

p.P241_G242del2

c.721_725del6

1 paper

NM_000543.5

p.R240Q

c.719G>A

2 papers

NM_000543.5

p.Y245H

c.733T>C