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.S135_H138del4

c.403_413del12

Surrounding Variants

3 papers

NM_000543.5

p.Q134H

c.402A>T

1 paper

NM_000543.5

p.S135_L139del5

c.403_416del15

1 paper

NM_000543.5

p.Q134L

c.401A>T

1 paper

NM_000543.5

p.Q134*

c.400C>T

1 paper

NM_000543.5

p.S135S

c.405C>A

1 paper

NM_000543.5

p.I136V

c.406A>G

2 papers

NM_000543.5

p.C133Y

c.398G>A

5 papers

NM_000543.5

p.V132A

c.395T>C

3 papers

NM_000543.5

p.V132M

c.394G>A

1 paper

NM_000543.5

p.V132L

c.394G>C

1 paper

NM_000543.5

p.V132L

c.394G>T

1 paper

NM_000543.5

p.H138_D143del6

c.412_428del18