Varaico: Literature-Extracted Genetic Variants

Gene:PRKCI
Variant:p.R480C
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PRKCI

NM_002740.6:p.R480C

Associated Papers

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Robinson K et al.

American Journal of Human Genetics, 2025

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Robinson K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1E_Excluded_datasets

Possible prognostic impact of PKCι genetic variants in prostate cancer.

Hafeez A et al.

Cancer Cell International, 2024

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Zhan Q et al.

Ebiomedicine, 2021

34839264 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Medullary Pancreatic Carcinoma Due to Somatic POLE Mutation: A Distinctive Pancreatic Carcinoma With Marked Long-Term Survival.

Kryklyva V et al.

Pancreas, 2020

32658072 (PubMed )
Supplement: mpa-49-999-s001.pdf

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2

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

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases.

Hoadley KA et al.

Plos Medicine, 2016

27923045 (PubMed )
Supplement: pmed.1002174.s018.xlsx › SuppTable6_A7_Tier1_SNVs

Intra- and inter-tumor heterogeneity in a vemurafenib-resistant melanoma patient and derived xenografts.

Kemper K et al.

Embo Molecular Medicine, 2015

26105199 (PubMed )
Supplement: emmm0007-1104-sd1.pdf
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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."