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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM207

Variant:p.L115I

TMEM207

3q28 (UCSC)OMIM GTEx

11 papers

Gene Aliases

HGNC Name

transmembrane protein 207

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:190429693 G>T

NM_207316.3

p.L115I

c.343C>A

Exome: 0.0% (AC=138, hom=0)Genome: 0.0% (AC=32, hom=0)18 overlapping SVs

Surrounding Variants

chr3:190429653 G>A

NM_207316.3

p.P128L

c.383C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 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."