Varaico: Literature-Extracted Genetic Variants

Gene:TIMM44
Variant:p.P308Q
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TIMM44

NM_006351.4:p.P308Q

Associated Papers

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.

Jiang YJ et al.

Frontiers in Oncology, 2024

Inherited Thyroid Tumors With Oncocytic Change.

Correia M et al.

Frontiers in Endocrinology, 2021

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families.

Veyssiere M et al.

Plos One, 2019

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Kember RL et al.

Translational Psychiatry, 2018

30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5

Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma.

Mithraprabhu S et al.

International Journal of Molecular Sciences, 2018

29937522 (PubMed )
Supplement: ijms-19-01858-s001.zip › ijms-320037-supp › Supplementary_File_S1.xlsx › EM123_and_EM-S_SNV

Adaptation of a Genetic Screen Reveals an Inhibitor for Mitochondrial Protein Import Component Tim44.

Miyata N et al.

The Journal of Biological Chemistry, 2017

Protein translocation channel of mitochondrial inner membrane and matrix-exposed import motor communicate via two-domain coupling protein.

Banerjee R et al.

Elife, 2015

Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies.

Bonora E et al.

Journal of Oncology, 2010

Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas.

Bonora E et al.

British Journal of Cancer, 2006

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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."