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.A44_A48ins1

c.132_143dup12

Surrounding Variants

18 papers

NM_000543.5

p.V36A

c.107T>C

1 paper

NM_000543.5

p.A46_A48ins1

c.138_143dup6

1 paper

NM_000543.5

p.V36_L37ins3

c.108_109ins9

2 papers

NM_000543.5

p.V36delFs

c.108delG

9 papers

NM_000543.5

p.A46_A48del0

c.138_143del6

4 papers

NM_000543.5

p.A44_A48del0

c.132_143del12

1 paper

NM_000543.5

p.V36_A44del0

c.108_131del24

1 paper

NM_000543.5

p.V36V

c.108G>A

1 paper

NM_000543.5

p.V36ins1

c.106_107insCGC

2 papers

NM_000543.5

p.L37delFs

c.109delC

1 paper

NM_000543.5

p.L37_A38delFs

c.109_113del5

1 paper

NM_000543.5

p.V36delFs

c.107delT