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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM135

Variant:p.P9R

TMEM135

11q14.2 (UCSC)OMIM PanelApp GTEx

34 papers

Pfam Domains

TMEM135_C_richaa 9–142UCSCN-terminal cysteine-rich region of Transmembrane protein 135

Tim17aa 250–358UCSCTim17/Tim22/Tim23/Pmp24 family

Gene Aliases

HGNC Name

transmembrane protein 135

HGNC Alias Symbols

FLJ22104; PMP52

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:87038071 C>G

NM_022918.4

p.P9R

c.26C>G

Exome: 0.0% (AC=380, hom=3)Genome: 0.3% (AC=451, hom=4)39 overlapping SVs

Surrounding Variants

chr11:87038052 G>GAGTATATTTTATTTAATTTTTTTTTTTACATTCTCTGCTCTTAGGTAA

NM_022918.4

p.A3ins16

c.7_8ins48

exact variant not in gnomAD39 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."