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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACER2

Variant:p.A31V

ACER2

9p22.1 (UCSC)OMIM GTEx

24 papers

RefSeq Summary

The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long cha...

Pfam Domains

Ceramidaseaa 11–262UCSCCeramidase

Gene Aliases

HGNC Name

alkaline ceramidase 2

HGNC Previous Symbol

ASAH3L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:19409176 C>T

NM_001010887.3

p.A31V

c.92C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a24 overlapping SVs

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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."