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

19 papers

NM_177924.5

p.P362R

c.1085C>G

Surrounding Variants

1 paper

NM_177924.5

p.P362A

c.1084C>G

6 papers

NM_177924.5

p.P362T

c.1084C>A

2 papers

NM_177924.5

p.V363I

c.1087G>A

1 paper

NM_177924.5

p.P362_V363delins

c.1086_1088delinsAAAACA

3 papers

NM_004315.6

p.T376I

c.1127C>T

NM_177924.5

p.T360I

c.1079C>T

3 papers

NM_177924.5

p.T360A

c.1078A>G

NM_004315.6

p.T376A

c.1126A>G

7 papers

NM_004315.6

p.K382Q

c.1144A>C

NM_177924.5

p.K366Q

c.1096A>C

6 papers

NM_177924.5

p.K366_L367Splc

c.1098+1G>T

2 papers

NM_177924.5

p.N348S

c.1043A>G

1 paper

NM_004315.6

p.E363_N364Splc

c.1089+1G>C

1 paper

NM_177924.5

p.E347K

c.1039G>A

1 paper

NM_004315.6

p.Q362E

c.1084C>G