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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C8orf89

Variant:p.E51G

C8orf89

8q21.11 (UCSC)GTEx

8 papers

Pfam Domains

DUF5537aa 1–160UCSCFamily of unknown function (DUF5537)

Gene Aliases

HGNC Name

chromosome 8 open reading frame 89

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:73257102 T>C

NM_001243237.3

p.E51G

c.152A>G

Exome: 21.1% (AC=290497, hom=33032)Genome: 31.0% (AC=47177, hom=9346)28 overlapping SVs

Surrounding Variants

chr8:73259382 A>G

NM_001243237.3

p.F26S

c.77T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a28 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."