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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAQR5

Variant:p.S11N

PAQR5

15q23 (UCSC)OMIM GTEx

24 papers

Pfam Domains

HlyIIIaa 43–269UCSCHaemolysin-III related

Gene Aliases

HGNC Name

progestin and adipoQ receptor family member 5

HGNC Alias Symbols

FLJ20190; MPRG

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr15:69360112 G>A

NM_017705.4

p.S11N

c.32G>A

Exome: 4.3% (AC=63432, hom=2487)Genome: 8.5% (AC=12870, hom=855)14 overlapping SVs

Surrounding Variants

chr15:69360100 C>G

NM_017705.4

p.P7R

c.20C>G

Exome: 0.4% (AC=5185, hom=19)Genome: 0.3% (AC=413, hom=1)14 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."