Varaico: Literature-Extracted Genetic Variants

Gene:KNSTRN
Variant:p.S24F
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KNSTRN

NM_033286.4:p.S24F

Associated Papers

To be or not to be a protein coding mutation, that's the question!

De Groote D et al.

Nar Genomics and Bioinformatics, 2025

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

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

A nonsense mutation in SUFU associated with multiple infundibulocystic basal cell carcinomas.

Dege T et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2023

Nonsense-Mutation in SUFU ist mit multiplen infundibulozystischen Basalzellkarzinomen assoziiert: A nonsense mutation in SUFU associated with multiple infundibulocystic basal cell carcinomas.

Dege T et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2023

Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility.

Talwar JV et al.

American Journal of Human Genetics, 2023

37339630 (PubMed )
Supplement: mmc3.pdf

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

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Chang D et al.

Npj Genomic Medicine, 2021

Profile of Basal Cell Carcinoma Mutations and Copy Number Alterations - Focus on Gene-Associated Noncoding Variants.

Nawrocka PM et al.

Frontiers in Oncology, 2021

Preparation of the standard cell lines for reference mutations in cancer gene-panels by genome editing in HEK 293 T/17 cells.

Suzuki T et al.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2020

Somatic mutations in kinetochore gene KNSTRN are associated with basal proliferating actinic keratoses and cutaneous squamous cell carcinoma.

Schmitz L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Wong K et al.

Nature Communications, 2019

A mitotic SKAP isoform regulates spindle positioning at astral microtubule plus ends.

Kern DM et al.

The Journal of Cell Biology, 2016

Oncogene and therapeutic target analyses in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Helbig D et al.

Oncotarget, 2016

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT et al.

Nature Biotechnology, 2016

Absence of KNSTRN Mutation, a Cutaneous Squamous Carcinoma-Specific Mutation, in Other Solid Tumors and Leukemias.

Lee JH et al.

Pathology Oncology Research : Por, 2016

Mutations in the Kinetochore Gene KNSTRN in Basal Cell Carcinoma.

Jaju PD et al.

The Journal of Investigative Dermatology, 2015

The Distinctive Mutational Spectra of Polyomavirus-Negative Merkel Cell Carcinoma.

Harms PW et al.

Cancer Research, 2015

Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.

Castellsagué J et al.

Embo Molecular Medicine, 2015

25810463 (PubMed )
Supplement: emmm0007-0608-sd2.xlsx › MPNST-SP-001_SNV

Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma.

Lee CS et al.

Nature Genetics, 2014

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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."