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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CMC2

Variant:p.T11S

CMC2

16q23.2 (UCSC)GTEx

11 papers

Pfam Domains

Cmc1aa 1–71UCSCCytochrome c oxidase biogenesis protein Cmc1 like

Gene Aliases

HGNC Name

C-X9-C motif containing 2

HGNC Previous Symbol

C16orf61

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr16:80997363 G>C

NM_020188.5

p.T11S

c.32C>G

Exome: 0.0% (AC=380, hom=2)Genome: 0.0% (AC=46, hom=0)15 overlapping SVs

Surrounding Variants

chr16:80997364 T>A

NM_020188.5

p.T11S

c.31A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 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."