Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L112Q
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PTEN

NM_000314.8:p.L112Q

Associated Papers

Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Christodoulou E et al.

Pigment Cell & Melanoma Research, 2021

32767816 (PubMed )
Supplement: PCMR-34-122-s006.xlsx › Sheet1

Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.

Palumbo E et al.

Journal of Biomolecular Structure & Dynamics, 2020

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S4_mutants_nochange.xlsx › Mutants_no_change

EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer.

Oldrini B et al.

Nature Communications, 2017

29229958 (PubMed )
Supplement: 41467_2017_2185_MOESM8_ESM.xlsx › Table_S7

Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours.

Wong SQ et al.

Scientific Reports, 2013

Genetic alterations of PTEN in human melanoma.

Aguissa-Touré AH et al.

Cellular and Molecular Life Sciences : Cmls, 2012

Osteopontin is a downstream effector of the PI3-kinase pathway in melanomas that is inversely correlated with functional PTEN.

Packer L et al.

Carcinogenesis, 2006

PTEN inactivation is rare in melanoma tumours but occurs frequently in melanoma cell lines.

Pollock PM et al.

Melanoma Research, 2002

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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."