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.S34*

c.101C>A

Surrounding Variants

1 paper

NM_177924.5

p.S34*

c.101C>G

13 papers

NM_177924.5

p.Y36C

c.107A>G

NM_001127505.3

p.Y52C

c.155A>G

7 papers

NM_177924.5

p.P37T

c.109C>A

4 papers

NM_001127505.3

p.C47F

c.140G>T

NM_177924.5

p.C31F

c.92G>T

1 paper

NM_177924.5

p.D30G

c.89A>G

2 papers

NM_177924.5

p.D30N

c.88G>A

1 paper

NM_177924.5

p.S39insFs

c.116dupC

3 papers

NM_177924.5

p.G40R

c.118G>C

2 papers

NM_177924.5

p.G40R

c.118G>A

1 paper

NM_177924.5

p.G40E

c.119G>A

8 papers

NM_177924.5

p.T42A

c.124A>G

NM_001127505.3

p.T58A

c.172A>G

19 papers

NM_177924.5

p.T42M

c.125C>T