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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C17orf114

C17orf114

17p13.2 (UCSC)GTEx

1 paper

Gene Aliases

HGNC Name

chromosome 17 open reading frame 114

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr17:4802288 C>T

NM_001395223.2

p.W11*

c.32G>A

exact variant not in gnomAD10 overlapping SVs

chr17:4802287 C>T

NM_001395223.2

p.W11*

c.33G>A

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=1, hom=0)10 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."