Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K125Q
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PTEN

NM_000314.8:p.K125Q

Associated Papers

Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.

Srinivasan S et al.

Bmc Genomics, 2025

Mechanism of the enterobacterial metabolite sodium butyrate mediating ferroptosis to affect osteogenic ability of BMSCs in mice with estrogen deficiency-caused osteoporosis via the PTEN/PI3K/AKT pathway.

Li Y et al.

Apoptosis : an International Journal on Programmed Cell Death, 2025

RAS and BRAF mutations in cell-free DNA are predictive for outcome of cetuximab monotherapy in patients with tissue-tested RAS wild-type advanced colorectal cancer.

van Helden EJ et al.

Molecular Oncology, 2019

31350822 (PubMed )
Supplement: MOL2-13-2361-s007.xlsx › Blad1

Resveratrol regulates PTEN/Akt pathway through inhibition of MTA1/HDAC unit of the NuRD complex in prostate cancer.

Dhar S et al.

Biochimica Et Biophysica Acta, 2015

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

Lobo GP et al.

Human Molecular Genetics, 2009

19457929 (PubMed )
Supplement: ddp220_1.pdf

PCAF modulates PTEN activity.

Okumura K et al.

The Journal of Biological Chemistry, 2006

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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."