Varaico: Literature-Extracted Genetic Variants

Gene:TOP1MT
Variant:p.R525W
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TOP1MT

NM_052963.3:p.R525W

Associated Papers

Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome.

Al Khatib I et al.

The Journal of Biological Chemistry, 2022

Distribution bias and biochemical characterization of TOP1MT single nucleotide variants.

Zhang H et al.

Scientific Reports, 2017

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Wang W et al.

Nucleic Acids Research, 2011

20843780 (PubMed )
Supplement: supp_gkq750_NAR-WangWetal-SuppTable-6.xls › gene_snp_analysis4

Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia.

Rudd MF et al.

Blood, 2006

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