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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM117

Variant:p.I121V

TMEM117

12q12 (UCSC)GTEx

25 papers

Pfam Domains

TMEM117aa 4–416UCSCTMEM117 protein family

Gene Aliases

HGNC Name

transmembrane protein 117

HGNC Alias Symbol

DKFZp434K2435

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:43944293 A>G

NM_032256.3

p.I121V

c.361A>G

Exome: 0.0% (AC=236, hom=0)Genome: 0.0% (AC=13, hom=0)24 overlapping SVs

Surrounding Variants

chr12:43944252 C>A

NM_032256.3

p.S107*

c.320C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a24 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."