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

1 paper

NM_177924.5

p.R44S

c.132A>T

Surrounding Variants

1 paper

NM_177924.5

p.R44S

c.132A>C

1 paper

NM_177924.5

p.G45V

c.134G>T

1 paper

NM_004315.6

p.Y59*

c.177C>G

1 paper

NM_004315.6

p.Y59*

c.177C>A

1 paper

NM_177924.5

p.A46S

c.136G>T

1 paper

NM_177924.5

p.A46P

c.136G>C

1 paper

NM_177924.5

p.A46T

c.136G>A

24 papers

NM_177924.5

p.T42M

c.125C>T

13 papers

NM_177924.5

p.T42A

c.124A>G

NM_004315.6

p.T58A

c.172A>G

1 paper

NM_177924.5

p.P48L

c.143C>T

1 paper

NM_177924.5

p.P48R

c.143C>G

2 papers

NM_177924.5

p.P48Q

c.143C>A