Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.S564*
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MSH6

NM_000179.3:p.S564*

Associated Papers

Investigating somatic variants and pathways in mismatch repair-deficient (dMMR) colorectal carcinoma in South Africa.

Aldera AP et al.

Journal of Clinical Pathology, 2025

Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.

Wasson JL et al.

Familial Cancer, 2025

MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.

Kaczorowski M et al.

The Journal of Pathology. Clinical Research, 2025

40105034 (PubMed )
Supplement: CJP2-11-e70025-s001.xlsx › Table_S3

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines.

Pivovarcikova K et al.

Virchows Archiv : an International Journal of Pathology, 2023

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Chunn LM et al.

Frontiers in Genetics, 2020

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

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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."