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_177924.5

p.L241P

c.722T>C

Surrounding Variants

5 papers

NM_177924.5

p.I240T

c.719T>C

1 paper

NM_177924.5

p.G242A

c.725G>C

1 paper

NM_177924.5

p.I240L

c.718A>C

7 papers

NM_177924.5

p.V246A

c.737T>C

1 paper

NM_177924.5

p.G235A

c.704G>C

7 papers

NM_177924.5

p.G235D

c.704G>A

NM_004315.6

p.G251D

c.752G>A

2 papers

NM_177924.5

p.G235C

c.703G>T

7 papers

NM_177924.5

p.G235R

c.703G>C

1 paper

NM_177924.5

p.G235Splc

c.704-1G>A

3 papers

NM_004315.6

p.G251Splc

c.752-2A>G

NM_177924.5

p.G235Splc

c.704-2A>G

11 papers

NM_177924.5

p.R254G

c.760A>G

1 paper

NM_177924.5

p.T255R

c.764C>G