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_004315.6

p.V320I

c.958G>A

NM_177924.5

p.V304I

c.910G>A

Surrounding Variants

1 paper

NM_177924.5

p.V304L

c.910G>T

1 paper

NM_177924.5

p.V304_Y305insA

c.910_914ins3

1 paper

NM_177924.5

p.V304L

c.910G>C

1 paper

NM_177924.5

p.L302S

c.905T>C

1 paper

NM_177924.5

p.S301*

c.902C>G

1 paper

NM_177924.5

p.S301*

c.902C>A

4 papers

NM_177924.5

p.E306Splc

c.917+4A>G

3 papers

NM_177924.5

p.E306Splc

c.917+5G>A

5 papers

NM_177924.5

p.R296*

c.886C>T

1 paper

NM_177924.5

p.R296G

c.886C>G

1 paper

NM_177924.5

p.G291insFs

c.872_873insG

2 papers

NM_177924.5

p.N286_S288del3

c.856_863del9