Varaico: Literature-Extracted Genetic Variants

Gene:STK11
Variant:p.L67P
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STK11

NM_000455.5:p.L67P

Associated Papers

LKB1 biology: assessing the therapeutic relevancy of LKB1 inhibitors.

Trelford CB et al.

Cell Communication and Signaling : Ccs, 2024

Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.

Summey RM et al.

Cancer Medicine, 2024

38898688 (PubMed )
Supplement: CAM4-13-e7340-s001.docx

[The course and clinical manifestations of Peutz-Jeghers syndrome in the Russian population].

Savelyeva ТA et al.

Terapevticheskii Arkhiv, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P, L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein.

Rungsung I et al.

Journal of Biomolecular Structure & Dynamics, 2019

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

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes.

Mehenni H et al.

Human Molecular Genetics, 2005

KinMutBase: a registry of disease-causing mutations in protein kinase domains.

Ortutay C et al.

Human Mutation, 2005

Genotype-phenotype correlations in Peutz-Jeghers syndrome.

Amos CI et al.

Journal of Medical Genetics, 2004

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

Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

Olschwang S et al.

Journal of Medical Genetics, 2001

LKB1, a novel serine/threonine protein kinase and potential tumour suppressor, is phosphorylated by cAMP-dependent protein kinase (PKA) and prenylated in vivo.

Collins SP et al.

The Biochemical Journal, 2000

The molecular basis and clinical aspects of Peutz-Jeghers syndrome.

Hemminki A

Cellular and Molecular Life Sciences : Cmls, 1999

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

Ylikorkala A et al.

Human Molecular Genetics, 1999

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

Mehenni H et al.

American Journal of Human Genetics, 1998

[Peutz-Jeghers syndrome].

Senderova RI et al.

Terapevticheskii Arkhiv, 1981

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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."