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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CMC1

Variant:p.K101E

CMC1

3p24.1 (UCSC)OMIM GTEx

10 papers

Pfam Domains

Cmc1aa 6–57UCSCCytochrome c oxidase biogenesis protein Cmc1 like

Gene Aliases

HGNC Name

C-X9-C motif containing 1

HGNC Previous Symbol

C3orf68

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:28319609 A>G

NM_182523.2

p.K101E

c.301A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a50 overlapping SVs

Surrounding Variants

chr3:28319534 G>A

NM_182523.2

p.E76K

c.226G>A

exact variant not in gnomAD50 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."