Varaico: Literature-Extracted Genetic Variants

Gene:TOM1
Variant:p.G307D
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TOM1

NM_005488.3:p.G307D

Associated Papers

A TOM1 variant impairs interaction with TOLLIP, autophagosome-lysosome fusion and regulation of innate immunity.

Lång HKM et al.

Disease Models & Mechanisms, 2025

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › HR-deficient_PALB2_mutant

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.

Keskitalo S et al.

Npj Genomic Medicine, 2019

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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."