Varaico: Literature-Extracted Genetic Variants

Gene:PABPC1
Variant:p.R493C
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PABPC1

NM_002568.4:p.R493C

Associated Papers

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

Multi-region sequencing depicts intratumor heterogeneity and clonal evolution in cervical cancer.

Wang C et al.

Medical Oncology (northwood, London, England), 2023

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Cui Y et al.

Plos One, 2021

34478472 (PubMed )
Supplement: pone.0256979.s003.xlsx › COSMICv87_HNSCC

The effects of p53 gene inactivation on mutant proteome expression in a human melanoma cell model.

Faktor J et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.

Fojo T et al.

Bmc Medical Genomics, 2020

33148256 (PubMed )
Supplement: 12920_2020_809_MOESM2_ESM.xlsx › Supplemental_Table_1__part_1_

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Zeltner N et al.

Nature Medicine, 2016

27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224

Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.

Bavarva JH et al.

Oncotarget, 2014

24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.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."