Varaico: Literature-Extracted Genetic Variants

Gene:STK11
Variant:p.R297K
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STK11

NM_000455.5:p.R297K

Associated Papers

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

Gu GL et al.

World Journal of Gastroenterology, 2021

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_SCC

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

Tan H et al.

Familial Cancer, 2017

STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.

Wang Z et al.

Human Mutation, 2014

Colon cancer associated genes exhibit signatures of positive selection at functionally significant positions.

Morgan CC et al.

Bmc Evolutionary Biology, 2012

Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.

de Leng WW et al.

Clinical Genetics, 2007

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.

Hearle N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Aretz S et al.

Human Mutation, 2005

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

Lim W et al.

British Journal of Cancer, 2003

LKB1, a protein kinase regulating cell proliferation and polarity.

Boudeau J et al.

Febs Letters, 2003

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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."