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.V36ins2

c.106_107ins6

Surrounding Variants

2 papers

NM_000543.5

p.G34_L35ins4

c.102_103ins12

1 paper

NM_000543.5

p.G34delins

c.102delinsCCTGGCGCTGGCGCTGGCGCTGGCG

1 paper

NM_000543.5

p.L35delFs

c.103_104delCT

1 paper

NM_000543.5

p.L35_V36delFs

c.103_107del5

3 papers

NM_000543.5

p.L35_A38del0

c.103_114del12

2 papers

NM_000543.5

p.V36_A42del0

c.107_124del18

5 papers

NM_000543.5

p.L35_A42del0

c.103_126del24

1 paper

NM_000543.5

p.G34_L35delFs

c.102_103delCC

1 paper

NM_000543.5

p.G34fs

c.100_101fs

2 papers

NM_000543.5

p.V36_A38del3

c.106_113del9

1 paper

NM_000543.5

p.L35_A38delFs

c.105_114del10

1 paper

NM_000543.5

p.M33I

c.99G>A