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.T362A

c.1084A>G

Surrounding Variants

1 paper

NM_000543.5

p.T362I

c.1085C>T

3 papers

NM_000543.5

p.R361H

c.1082G>A

1 paper

NM_000543.5

p.L363I

c.1087C>A

1 paper

NM_000543.5

p.R361C

c.1081C>T

2 papers

NM_000543.5

p.L363P

c.1088T>C

2 papers

NM_000543.5

p.L363R

c.1088T>G

1 paper

NM_000543.5

p.L360R

c.1079T>G

5 papers

NM_000543.5

p.R364G

c.1090A>G

1 paper

NM_000543.5

p.R364K

c.1091G>A

21 papers

NM_000543.5

p.A359D

c.1076C>A

3 papers

NM_000543.5

p.A359V

c.1076C>T

3 papers

NM_000543.5

p.R364Splc

c.1091+1G>A