Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.L21del1
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EIF2AK3

NM_004836.7:p.L21del1

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.

Yang Y et al.

Pediatric Investigation, 2021

34589676 (PubMed )
Supplement: PED4-5-211-s001.pdf

Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension.

Abou Hassan OK et al.

Bmc Medical Genetics, 2019

31711431 (PubMed )
Supplement: 12881_2019_915_MOESM5_ESM.pdf

17-Aminogeldanamycin selectively diminishes IRE1α-XBP1s pathway activity and cooperatively induces apoptosis with MEK1/2 and BRAFV600E inhibitors in melanoma cells of different genetic subtypes.

Mielczarek-Lewandowska A et al.

Apoptosis : an International Journal on Programmed Cell Death, 2019

Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva.

Han MR et al.

Experimental & Molecular Medicine, 2018

29422544 (PubMed )
Supplement: emm2017265x2.pdf

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 › Patient_2_late_met_1
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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."