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Article

Discriminating activating, deactivating and resistance variants in protein kinases.

Genome medicine - 28 Oct 2025

Singh Gurdeep, Schmenger Torsten, Gonzalez-Sanchez Juan Carlos, Kutkina Anastasiia, Bremec Nina, Diwan Gaurav D, Mozas Pablo, López Cristina, Siebert Reiner, Sotillo Rocio, Russell Robert B

Abstract excerpt

BACKGROUND: Distinguishing whether genetic variants in protein kinases cause gain or loss of function is critical in clinical genetics. In particular, gain (and not loss)-of-function variants are often immediately amenable to treatment by inhibitors, making their identification a potential boon to personalised medicine. Most existing computational methods for variant pathogenicity prediction simply distinguish...

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Identifiers

PMID: 41152984
DOI: 10.1186/s13073-025-01564-z
PMCID: PMC12570665

Genes

MAP2K3
PIM1

Variants

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