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.A597T

c.1789G>A

Surrounding Variants

2 papers

NM_000543.5

p.A597fs

c.1789_1790fs

6 papers

NM_000543.5

p.A597fs

c.1789_1790fs

2 papers

NM_000543.5

p.C596*

c.1788T>A

1 paper

NM_000543.5

p.C596Y

c.1787G>A

1 paper

NM_000543.5

p.Q598*

c.1792C>T

1 paper

NM_000543.5

p.C596R

c.1786T>C

2 papers

NM_000543.5

p.Q598R

c.1793A>G

1 paper

NM_000543.5

p.L599I

c.1795C>A

1 paper

NM_000543.5

p.L595V

c.1783C>G

6 papers

NM_000543.5

p.L599F

c.1795C>T

5 papers

NM_000543.5

p.L595_C596delFs

c.1785_1786delTT

4 papers

NM_000543.5

p.L595delFs

c.1783_1784delCT