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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOMM5

TOMM5

9p13.2 (UCSC)OMIM GTEx

8 papers

Pfam Domains

Tom5aa 1–50UCSCMitochondrial import receptor subunit or translocase

Tom5aa 1–50UCSCMitochondrial import receptor subunit or translocase

Gene Aliases

HGNC Name

translocase of outer mitochondrial membrane 5

HGNC Previous Symbol

C9orf105

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr9:37592494 C>T

NM_001001790.3

p.P13P

c.39G>A

Exome: 0.1% (AC=1378, hom=1)Genome: 0.1% (AC=83, hom=0)14 overlapping SVs

chr9:37592455 G>A

NM_001001790.3

p.S26S

c.78C>T

Exome: 14.3% (AC=208889, hom=16478)Genome: 18.6% (AC=28325, hom=3238)14 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."