Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.R20S
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MERTK

NM_006343.3:p.R20S

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2

A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.

Parinot C et al.

Advances in Experimental Medicine and Biology, 2016

Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.

Pan CX et al.

Plos One, 2015

26270481 (PubMed )
Supplement: pone.0134346.s006.xlsx › Supp_Table_3

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.

Tschernutter M et al.

The British Journal of Ophthalmology, 2006

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Gal A et al.

Nature Genetics, 2000

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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."