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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC152

Variant:p.Y111Y

CCDC152

5p12 (UCSC)OMIM GTEx

15 papers

Gene Aliases

HGNC Name

coiled-coil domain containing 152

HGNC Alias Symbol

LOC100129792

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:42783479 T>C

NM_001134848.2

p.Y111Y

c.333T>C

Exome: 1.7% (AC=19183, hom=183)Genome: 1.1% (AC=1682, hom=19)69 overlapping SVs

Surrounding Variants

chr5:42783502 T>C

NM_001134848.2

p.V119A

c.356T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a69 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."