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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYDC5

PYDC5

1q23.1 (UCSC)GTEx

8 papers

Gene Aliases

HGNC Name

pyrin domain containing 5

HGNC Alias Symbol

POP3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr1:159000146 T>C

NM_001320010.2

p.H56R

c.167A>G

Exome: 5.2% (AC=1469, hom=105)Genome: 4.4% (AC=6708, hom=373)227 overlapping SVs

chr1:159000194 A>T

NM_001320010.2

p.L40Q

c.119T>A

Exome: 0.3% (AC=233, hom=7)Genome: 1.9% (AC=2926, hom=81)227 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."