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.V96E

c.287T>A

NM_004315.6

p.V112E

c.335T>A

Surrounding Variants

10 papers

NM_004315.6

p.V113G

c.338T>G

NM_177924.5

p.V97G

c.290T>G

10 papers

NM_177924.5

p.V97E

c.290T>A

1 paper

NM_177924.5

p.Q95*

c.283C>T

5 papers

NM_177924.5

p.V97_D98del1

c.290_292delCCA

11 papers

NM_177924.5

p.I93V

c.277A>G

1 paper

NM_177924.5

p.I93L

c.277A>C

1 paper

NM_177924.5

p.S90N

c.269G>A

1 paper

NM_177924.5

p.L101_P102Splc

c.303+7G>A

10 papers

NM_177924.5

p.V88M

c.262G>A

1 paper

NM_177924.5

p.F87F

c.261C>T

4 papers

NM_004315.6

p.T102insFs

c.304dupA

NM_177924.5

p.T86insFs

c.256_257insA

4 papers

NM_004315.6

p.T102fs

c.304_305fs

NM_177924.5

p.T86fs

c.256_257fs