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

4 papers

NM_000543.5

p.L371delFs

c.1111_1112delCT

Surrounding Variants

2 papers

NM_000543.5

p.A370delFs

c.1110delT

9 papers

NM_000543.5

p.Y369C

c.1106A>G

5 papers

NM_000543.5

p.L371fs

c.1111_1112fs

2 papers

NM_000543.5

p.Y369H

c.1105T>C

1 paper

NM_000543.5

p.Y369fs

c.1105_1106fs

1 paper

NM_000543.5

p.L371P

c.1112T>C

1 paper

NM_000543.5

p.P373insFs

c.1118dupC

6 papers

NM_000543.5

p.F368fs

c.1102_1103fs

1 paper

NM_000543.5

p.F368insFs

c.1103dupT

2 papers

NM_000543.5

p.P373A

c.1117C>G

6 papers

NM_000543.5

p.P373S

c.1117C>T

1 paper

NM_000543.5

p.P373delFs

c.1119delA