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.P73L

c.218C>T

NM_177924.5

p.P57L

c.170C>T

Surrounding Variants

3 papers

NM_177924.5

p.P58L

c.173C>T

3 papers

NM_177924.5

p.P58insFs

c.174dupC

8 papers

NM_177924.5

p.Y59*

c.177C>G

6 papers

NM_177924.5

p.Y59*

c.177C>A

3 papers

NM_177924.5

p.W62*

c.185G>A

3 papers

NM_177924.5

p.W62*

c.186G>A

1 paper

NM_177924.5

p.E64*

c.190G>T

2 papers

NM_177924.5

p.E64D

c.192A>T

1 paper

NM_177924.5

p.E64D

c.192A>C

1 paper

NM_177924.5

p.W49*

c.147G>A

2 papers

NM_177924.5

p.W49*

c.146G>A

1 paper

NM_177924.5

p.P48L

c.143C>T