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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PACS2

Variant:p.T27A

PACS2

14q32.33 (UCSC)OMIM PanelApp GTEx

119 papers

Pfam Domains

C2_PACS_Naa 20–181UCSCN-terminal C2 domain of phosphofurin acidic cluster sorting protein

Pacs-1aa 473–885UCSCPACS-1 cytosolic sorting protein

Gene Aliases

HGNC Name

phosphofurin acidic cluster sorting protein 2

HGNC Previous Symbol

PACS1L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr14:105314997 A>G

NM_001100913.3

p.T27A

c.79A>G

Exome: 0.0% (AC=182, hom=2)Genome: 0.1% (AC=131, hom=2)9 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."