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_004315.6

p.Q362E

c.1084C>G

Surrounding Variants

1 paper

NM_177924.5

p.E347K

c.1039G>A

1 paper

NM_004315.6

p.E363_N364Splc

c.1089+1G>C

1 paper

NM_177924.5

p.T335M

c.1004C>T

1 paper

NM_177924.5

p.T335A

c.1003A>G

1 paper

NM_177924.5

p.R334insFs

c.1000_1001insA

8 papers

NM_177924.5

p.R333H

c.998G>A

NM_004315.6

p.R349H

c.1046G>A

6 papers

NM_004315.6

p.R349C

c.1045C>T

NM_177924.5

p.R333C

c.997C>T

11 papers

NM_177924.5

p.R333G

c.997C>G

NM_004315.6

p.R349G

c.1045C>G

2 papers

NM_177924.5

p.D332H

c.994G>C

8 papers

NM_004315.6

p.D347N

c.1039G>A

NM_177924.5

p.D331N

c.991G>A

1 paper

NM_177924.5

p.P327S

c.979C>T

1 paper

NM_177924.5

p.R323C

c.967C>T