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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C1orf146

Variant:p.K10R

C1orf146

1p22.1 (UCSC)OMIM GTEx

11 papers

Pfam Domains

SCREaa 9–170UCSCProtein SPO16 homolog

Gene Aliases

HGNC Name

chromosome 1 open reading frame 146

HGNC Alias Symbols

SPO16; SCRE

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr1:92231449 A>G

NM_001012425.2

p.K10R

c.29A>G

exact variant not in gnomAD238 overlapping SVs

Surrounding Variants

chr1:92231481 C>G

NM_001012425.2

p.L21V

c.61C>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=7, hom=0)238 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."