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

2 papers

NM_000543.5

p.N337S

c.1010A>G

Surrounding Variants

5 papers

NM_000543.5

p.G336S

c.1006G>A

1 paper

NM_000543.5

p.S339F

c.1016C>T

2 papers

NM_000543.5

p.S339S

c.1017C>T

1 paper

NM_000543.5

p.S340F

c.1019C>T

5 papers

NM_000543.5

p.I334T

c.1001T>C

1 paper

NM_000543.5

p.R341C

c.1021C>T

4 papers

NM_000543.5

p.R341H

c.1022G>A

4 papers

NM_000543.5

p.R341P

c.1022G>C

1 paper

NM_000543.5

p.F333S

c.998T>C

4 papers

NM_000543.5

p.F333fs

c.997_998fs

11 papers

NM_000543.5

p.F333fs

c.997_998fs

3 papers

NM_000543.5

p.P332H

c.995C>A