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.F368insFs

c.1103dupT

Surrounding Variants

6 papers

NM_000543.5

p.F368fs

c.1102_1103fs

2 papers

NM_000543.5

p.Y369H

c.1105T>C

1 paper

NM_000543.5

p.Y369fs

c.1105_1106fs

9 papers

NM_000543.5

p.Y369C

c.1106A>G

6 papers

NM_000543.5

p.G367insFs

c.1101dupG

1 paper

NM_000543.5

p.G367delFs

c.1101delG

4 papers

NM_000543.5

p.L371delFs

c.1111_1112delCT

1 paper

NM_000543.5

p.I365T

c.1094T>C

1 paper

NM_000543.5

p.G366_Y374delFs

c.1096_1120del25

2 papers

NM_000543.5

p.A370delFs

c.1110delT

5 papers

NM_000543.5

p.L371fs

c.1111_1112fs

1 paper

NM_000543.5

p.R364Splc

c.1092-1G>A