Varaico: Literature-Extracted Genetic Variants

Gene:ACER3
Variant:p.V72Splc

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
Selected Variant
1 paper
NM_018367.7
p.V72Splc
c.214+8493T>C
Surrounding Variants
1 paper
NM_018367.7
p.K61K
c.183G>A
1 paper
NM_018367.7
p.K61fs
c.181_182fs
3 papers
NM_018367.7
p.V52I
c.154G>A
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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."