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.L39_A40delFs

c.117_120del4

Surrounding Variants

1 paper

NM_000543.5

p.A40del1

c.118_119delGCG

1 paper

NM_000543.5

p.L39_L41delFs

c.117_121del5

1 paper

NM_000543.5

p.L39delFs

c.116delT

1 paper

NM_000543.5

p.L39fs

c.115_116fs

1 paper

NM_000543.5

p.L39delFs

c.115delC

1 paper

NM_000543.5

p.A38G

c.113C>G

3 papers

NM_000543.5

p.A38V

c.113C>T

1 paper

NM_000543.5

p.A38delFs

c.114delG

1 paper

NM_000543.5

p.A38_L39delFs

c.114_115delGC

1 paper

NM_000543.5

p.L37P

c.110T>C

1 paper

NM_000543.5

p.L37_L39delFs

c.111_115del5

1 paper

NM_000543.5

p.L41_L43delFs

c.123_127del5