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

5 papers

NM_000543.5

p.C387R

c.1159T>C

Surrounding Variants

1 paper

NM_000543.5

p.C387G

c.1159T>G

1 paper

NM_000543.5

p.C387fs

c.1159_1160fs

2 papers

NM_000543.5

p.C387F

c.1160G>T

1 paper

NM_000543.5

p.F386L

c.1158T>A

1 paper

NM_000543.5

p.F386L

c.1158T>G

1 paper

NM_000543.5

p.F386L

c.1156T>C

1 paper

NM_000543.5

p.R389delFs

c.1165delC

5 papers

NM_000543.5

p.N385K

c.1155T>A

5 papers

NM_000543.5

p.N385K

c.1155T>G

4 papers

NM_000543.5

p.N385S

c.1154A>G

2 papers

NM_000543.5

p.C387delFs

c.1159delT

3 papers

NM_000543.5

p.R389C

c.1165C>T