Varaico: Literature-Extracted Genetic Variants

SMPD4

44 papers

RefSeq Summary

The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular st...

Pfam Domains

mit_SMPDaseaa 1–816UCSCMitochondrial-associated sphingomyelin phosphodiesterase

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase 4

HGNC Alias Symbols

FLJ20297; FLJ20756; nSMase-3; KIAA1418; NSMASE3; NET13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017951.5

p.Q655R

c.1964A>G

Surrounding Variants

1 paper

NM_017951.5

p.P691_E692insA

c.2071_2075ins3

1 paper

NM_017951.5

p.E692*

c.2074G>T

3 papers

NM_017951.5

p.I696delFs

c.2088delG

1 paper

NM_017951.5

p.S703I

c.2108G>T

1 paper

NM_017951.5

p.V705I

c.2113G>A

3 papers

NM_017951.5

p.L708_F709delFs

c.2124_2125delAG

1 paper

NM_017951.5

p.Y625delFs

c.1874delT

1 paper

NM_017951.5

p.L623delFs

c.1867delG

2 papers

NM_017951.5

p.Q609R

c.1826A>G

1 paper

NM_017951.5

p.D605delins

c.1813delinsGTGGGTGAGGACTGACTCATCC

2 papers

NM_017951.5

p.H740_L741del2

c.2218_2222del6

1 paper

NM_017951.5

p.A747_S748delFs

c.2241_2242delTG