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.L377F

c.1129C>T

Surrounding Variants

5 papers

NM_000543.5

p.R378C

c.1132C>T

17 papers

NM_000543.5

p.R378H

c.1133G>A

3 papers

NM_000543.5

p.R378L

c.1133G>T

3 papers

NM_000543.5

p.L379F

c.1135C>T

2 papers

NM_000543.5

p.Y374*

c.1122C>A

2 papers

NM_000543.5

p.Y374*

c.1122C>G

1 paper

NM_000543.5

p.Y374F

c.1121A>T

1 paper

NM_000543.5

p.I380F

c.1138A>T

1 paper

NM_000543.5

p.L382delFs

c.1145_1146delTC

1 paper

NM_000543.5

p.Y374fs

c.1120_1121fs

1 paper

NM_000543.5

p.P373delFs

c.1119delA

2 papers

NM_000543.5

p.P373A

c.1117C>G