Varaico: Literature-Extracted Genetic Variants

Gene:ACER3

ACER3

30 papers

Pfam Domains

Ceramidaseaa 1–167UCSCCeramidase
Ceramidaseaa 34–224UCSCCeramidase

Gene Aliases

HGNC Name

alkaline ceramidase 3

HGNC Previous Symbol

PHCA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
4 papers
NM_018367.7
p.E33G
c.98A>G
3 papers
NM_018367.7
p.V52I
c.154G>A
3 papers
NM_018367.7
p.W78*
c.233G>A
3 papers
NM_018367.7
p.W78*
c.234G>A
1 paper
NM_018367.7
p.Y10H
c.28T>C
1 paper
NM_018367.7
p.P13S
c.37C>T
1 paper
NM_018367.7
p.L18P
c.53T>C
1 paper
NM_018367.7
p.D19G
c.56A>G
1 paper
NM_018367.7
p.E22G
c.65A>G
1 paper
NM_018367.7
p.W35Splc
c.103+2235A>C
1 paper
NM_018367.7
p.K61fs
c.181_182fs
1 paper
NM_018367.7
p.K61K
c.183G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."