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.I380F

c.1138A>T

Surrounding Variants

1 paper

NM_000543.5

p.L382delFs

c.1145_1146delTC

3 papers

NM_000543.5

p.L379F

c.1135C>T

4 papers

NM_000543.5

p.S381P

c.1141T>C

4 papers

NM_000543.5

p.S381F

c.1142C>T

17 papers

NM_000543.5

p.R378H

c.1133G>A

3 papers

NM_000543.5

p.R378L

c.1133G>T

1 paper

NM_000543.5

p.S381S

c.1143T>A

9 papers

NM_000543.5

p.L382F

c.1144C>T

5 papers

NM_000543.5

p.R378C

c.1132C>T

1 paper

NM_000543.5

p.N383fs

c.1147_1148fs

1 paper

NM_000543.5

p.L377F

c.1129C>T

11 papers

NM_000543.5

p.N383S

c.1148A>G