Varaico: Literature-Extracted Genetic Variants

ASAH1

209 papers

RefSeq Summary

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolyticall...

Pfam Domains

NAAA-betaaa 45–108UCSCbeta subunit of N-acylethanolamine-hydrolyzing acid amidase

CBAHaa 78–323UCSCLinear amide C-N hydrolases, choloylglycine hydrolase family

Gene Aliases

HGNC Name

N-acylsphingosine amidohydrolase 1

HGNC Alias Symbols

AC; PHP32; FLJ21558; ACDase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

21 papers

NM_177924.5

p.K152N

c.456A>C

NM_004315.6

p.K168N

c.504A>C

Surrounding Variants

19 papers

NM_177924.5

p.K152N

c.456A>T

NM_004315.6

p.K168N

c.504A>T

1 paper

NM_177924.5

p.G153S

c.457G>A

4 papers

NM_177924.5

p.G153Splc

c.457+4A>G

1 paper

NM_177924.5

p.S145_I146delFs

c.435_438del4

1 paper

NM_177924.5

p.C143S

c.428G>C

2 papers

NM_177924.5

p.C143G

c.427T>G

1 paper

NM_177924.5

p.C143S

c.427T>A

1 paper

NM_177924.5

p.F140L

c.420T>A

10 papers

NM_177924.5

p.E138V

c.413A>T

6 papers

NM_004315.6

p.E154*

c.460G>T

NM_177924.5

p.E138*

c.412G>T

6 papers

NM_177924.5

p.Y137delFs

c.410_411delAT

NM_004315.6

p.Y153delFs

c.458_459delAT

6 papers

NM_177924.5

p.Y137*

c.411T>G

NM_004315.6

p.Y153*

c.459T>G