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

9 papers

NM_000543.5

p.D253H

c.757G>C

Surrounding Variants

7 papers

NM_000543.5

p.D253E

c.759C>A

5 papers

NM_000543.5

p.D253E

c.759C>G

2 papers

NM_000543.5

p.C252S

c.754T>A

1 paper

NM_000543.5

p.C252R

c.754T>C

1 paper

NM_000543.5

p.L254P

c.761T>C

4 papers

NM_000543.5

p.L254delFs

c.762delG

1 paper

NM_000543.5

p.P255_R257del3

c.763_770del9

2 papers

NM_000543.5

p.L256insFs

c.766dupC

1 paper

NM_000543.5

p.K251E

c.751A>G

1 paper

NM_000543.5

p.K251fs

c.751_752fs

1 paper

NM_000543.5

p.P255S

c.763C>T

1 paper

NM_000543.5

p.R257_L259del0

c.769_777del9