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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C1orf232

C1orf232

1p36.11 (UCSC)GTEx

3 papers

Gene Aliases

HGNC Name

chromosome 1 open reading frame 230

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr1:26166071 C>T

NM_001364669.2

p.E44E

c.132G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a84 overlapping SVs

chr1:26166042 G>A

NM_001364669.2

p.A54V

c.161C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a84 overlapping SVs

chr1:26164357 T>C

NM_001364669.2

p.Q122R

c.365A>G

Exome: 46.2% (AC=112134, hom=28422)Genome: 38.3% (AC=58082, hom=13147)85 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."