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.L55L

c.165C>G

Surrounding Variants

1 paper

NM_000543.5

p.W56insFs

c.166_167dupTG

4 papers

NM_000543.5

p.A57delFs

c.169delG

3 papers

NM_000543.5

p.W56*

c.167G>A

3 papers

NM_000543.5

p.W56*

c.168G>A

4 papers

NM_000543.5

p.A57fs

c.169_170fs

1 paper

NM_000543.5

p.V54I

c.160G>A

1 paper

NM_000543.5

p.V54L

c.160G>C

1 paper

NM_000543.5

p.V54F

c.160G>T

1 paper

NM_000543.5

p.V54insFs

c.160_161insG

3 papers

NM_000543.5

p.A59delFs

c.175delG

1 paper

NM_000543.5

p.S52F

c.155C>T

2 papers

NM_000543.5

p.A59fs

c.175_176fs