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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UPK3BL2

UPK3BL2

7q22.1 (UCSC)GTEx

3 papers

Gene Aliases

HGNC Name

uroplakin 3B like 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr7:102541584 G>A

NM_001363506.2

p.T64M

c.191C>T

Exome: 3.1% (AC=39141, hom=12)Genome: 2.4% (AC=3401, hom=0)93 overlapping SVs

chr7:102540066 C>T

NM_001363506.2

p.E171K

c.511G>A

Exome: 0.0% (AC=355, hom=30)Genome: 0.0% (AC=25, hom=2)93 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."