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

23 papers

NM_000543.5

p.W32*

c.95G>A

Surrounding Variants

25 papers

NM_000543.5

p.W32*

c.96G>A

2 papers

NM_000543.5

p.M33fs

c.97_98fs

2 papers

NM_000543.5

p.M33_A48delFs

c.98_144del47

2 papers

NM_000543.5

p.W32del1

c.94_95delTGG

2 papers

NM_000543.5

p.M33R

c.98T>G

3 papers

NM_000543.5

p.G34delFs

c.100delG

1 paper

NM_000543.5

p.M33I

c.99G>A

1 paper

NM_000543.5

p.M33I

c.99G>C

1 paper

NM_000543.5

p.G34_L35insFs

c.102_103ins11

1 paper

NM_000543.5

p.M33I

c.99G>T

1 paper

NM_000543.5

p.G34fs

c.100_101fs

1 paper

NM_000543.5

p.G34_L35delFs

c.102_103delCC