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

2 papers

NM_177924.5

p.Y137N

c.409T>A

Surrounding Variants

1 paper

NM_177924.5

p.Y137fs

c.409_410fs

7 papers

NM_177924.5

p.F136L

c.408T>G

7 papers

NM_177924.5

p.F136L

c.408T>A

8 papers

NM_004315.6

p.Y153C

c.458A>G

NM_177924.5

p.Y137C

c.410A>G

6 papers

NM_177924.5

p.Y137*

c.411T>G

NM_004315.6

p.Y153*

c.459T>G

6 papers

NM_177924.5

p.Y137*

c.411T>A

NM_004315.6

p.Y153*

c.459T>A

7 papers

NM_177924.5

p.F136L

c.406T>C

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

1 paper

NM_177924.5

p.I135fs

c.403_404fs

10 papers

NM_177924.5

p.E138V

c.413A>T

1 paper

NM_177924.5

p.N134fs

c.400_401fs