Varaico: Literature-Extracted Genetic Variants

Gene:CNOT9
Variant:p.P131L
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CNOT9

NM_005444.3:p.P131L

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc2.xlsx › All

Mutation analysis in individual circulating tumor cells depicts intratumor heterogeneity in melanoma.

Sementsov M et al.

Embo Molecular Medicine, 2024

Whole-genome mapping of APOBEC mutagenesis in metastatic urothelial carcinoma identifies driver hotspot mutations and a novel mutational signature.

Nakauma-González JA et al.

Cell Genomics, 2024

38552621 (PubMed )
Supplement: mmc7.xlsx › S6.Driver_ApoHM

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

von Wintzingerode L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Fitzgerald S et al.

Molecular Diagnosis & Therapy, 2023

37099071 (PubMed )
Supplement: 40291_2023_651_MOESM1_ESM.xlsx › Suppl._Table_2

Identification of T Cell Receptors Targeting a Neoantigen Derived from Recurrently Mutated FGFR3.

Tate T et al.

Cancers, 2023

36831375 (PubMed )
Supplement: cancers-15-01031-s001.zip › Supplementary_Table_S1.xlsx › Table_S1

Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

Birkeälv S et al.

The Journal of Pathology, 2023

easyCLIP analysis of RNA-protein interactions incorporating absolute quantification.

Porter DF et al.

Nature Communications, 2021

33692367 (PubMed )
Supplement: 41467_2021_21623_MOESM1_ESM.pdf

Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications.

Vanni I et al.

Frontiers in Molecular Biosciences, 2020

Genomic Analysis of Circulating Tumor DNA Using a Melanoma-Specific UltraSEEK Oncogene Panel.

Gray ES et al.

The Journal of Molecular Diagnostics : Jmd, 2019

The central region of CNOT1 and CNOT9 stimulates deadenylation by the Ccr4-Not nuclease module.

Pavanello L et al.

The Biochemical Journal, 2018

Multiregional Sequencing Reveals Genomic Alterations and Clonal Dynamics in Primary Malignant Melanoma of the Esophagus.

Li J et al.

Cancer Research, 2018

SDHD Promoter Mutations Ablate GABP Transcription Factor Binding in Melanoma.

Zhang T et al.

Cancer Research, 2017

Deletions of the long arm of chromosome 5 define subgroups of T-cell acute lymphoblastic leukemia.

La Starza R et al.

Haematologica, 2016

The genomic landscape of cutaneous melanoma.

Zhang T et al.

Pigment Cell & Melanoma Research, 2016

Somatic Variations in Cervical Cancers in Indian Patients.

Das P et al.

Plos One, 2016

27829003 (PubMed )
Supplement: pone.0165878.s001.xlsx › somatic_cosmic_hit.list

Whole exome sequencing identifies a recurrent RQCD1 P131L mutation in cutaneous melanoma.

Wong SQ et al.

Oncotarget, 2015

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Krauthammer M et al.

Nature Genetics, 2012

22842228 (PubMed )
Supplement: NIHMS390374-supplement-1.pdf
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