Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.W456*
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MSH6

NM_000179.3:p.W456*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

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

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.

Crisafulli G et al.

Cancer Discovery, 2022

35522273 (PubMed )
Supplement: cd-21-1434_supplementary_figures_and_tables_suppsf1-sf7st1-st3.pdf

Mismatch Repair Deficiency in Ovarian Carcinoma: Frequency, Causes, and Consequences.

Leskela S et al.

The American Journal of Surgical Pathology, 2020

Universal screening of both endometrial and colon cancers increases the detection of Lynch syndrome.

Adar T et al.

Cancer, 2018

Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.

Egoavil C et al.

Plos One, 2013

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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."