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

1–12 of 317 variants

24 papers

NM_177924.5

p.T42M

c.125C>T

19 papers

NM_177924.5

p.T42M

c.125C>T

19 papers

NM_177924.5

p.K152N

c.456A>C

19 papers

NM_177924.5

p.P362R

c.1085C>G

17 papers

NM_177924.5

p.K152N

c.456A>T

12 papers

NM_177924.5

p.T42A

c.124A>G

12 papers

NM_177924.5

p.G284*

c.850G>T

11 papers

NM_177924.5

p.Y36C

c.107A>G

11 papers

NM_177924.5

p.I93V

c.277A>G

11 papers

NM_177924.5

p.R254G

c.760A>G

10 papers

NM_177924.5

p.V72M

c.214G>A

10 papers

NM_177924.5

p.V88M

c.262G>A