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

2 papers

NM_000543.5

p.A238T

c.712G>A

Surrounding Variants

1 paper

NM_000543.5

p.P236T

c.706C>A

4 papers

NM_000543.5

p.P236S

c.706C>T

1 paper

NM_000543.5

p.R240W

c.718C>T

1 paper

NM_000543.5

p.R240Q

c.719G>A

1 paper

NM_000543.5

p.P241_G242del2

c.721_725del6

2 papers

NM_000543.5

p.P236_W246del11

c.706_737del33

3 papers

NM_000543.5

p.G234D

c.701G>A

1 paper

NM_000543.5

p.G234insFs

c.702dupC

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.L235_A238delFs

c.703_713del11

2 papers

NM_000543.5

p.G242D

c.725G>A