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

38 papers

NM_000543.5

p.R498L

c.1493G>T

NM_001007593.3

p.R497L

c.1490G>T

Surrounding Variants

16 papers

NM_000543.5

p.R498H

c.1493G>A

5 papers

NM_000543.5

p.R498P

c.1493G>C

1 paper

NM_000543.5

p.R498S

c.1492C>A

10 papers

NM_000543.5

p.R498C

c.1492C>T

2 papers

NM_000543.5

p.V499M

c.1495G>A

1 paper

NM_000543.5

p.V499L

c.1495G>C

1 paper

NM_000543.5

p.V499L

c.1495G>T

2 papers

NM_000543.5

p.V499V

c.1497G>C

1 paper

NM_000543.5

p.V499_Y500delins

c.1497_1498delinsAC

2 papers

NM_000543.5

p.Y497H

c.1489T>C

12 papers

NM_000543.5

p.Y500H

c.1498T>C

2 papers

NM_000543.5

p.G496G

c.1488T>C