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.R602delFs

c.1804delC

Surrounding Variants

3 papers

NM_000543.5

p.A601T

c.1801G>A

2 papers

NM_000543.5

p.R602C

c.1804C>T

1 paper

NM_000543.5

p.R602fs

c.1804_1805fs

18 papers

NM_000543.5

p.R602H

c.1805G>A

3 papers

NM_000543.5

p.R602P

c.1805G>C

1 paper

NM_000543.5

p.R602L

c.1805G>T

1 paper

NM_000543.5

p.L599I

c.1795C>A

6 papers

NM_000543.5

p.L599F

c.1795C>T

2 papers

NM_000543.5

p.Q598R

c.1793A>G

1 paper

NM_000543.5

p.Q598*

c.1792C>T

1 paper

NM_000543.5

p.S605G

c.1813A>G

2 papers

NM_000543.5

p.A597T

c.1789G>A