Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1B
Variant:p.H90P
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DYRK1B

NM_004714.3:p.H90P

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_S5

Functional characterization of two DYRK1B variants causative of AOMS3.

Detro-Dassen S et al.

Orphanet Journal of Rare Diseases, 2024

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

Orenstein N et al.

Clinical Genetics, 2022

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.

Mendoza-Caamal EC et al.

Orphanet Journal of Rare Diseases, 2021

Screen identifies DYRK1B network as mediator of transcription repression on damaged chromatin.

Dong C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Mutational analysis of two residues in the DYRK homology box of the protein kinase DYRK1A.

Widowati EW et al.

Bmc Research Notes, 2018

DYRK1B mutations associated with metabolic syndrome impair the chaperone-dependent maturation of the kinase domain.

Abu Jhaisha S et al.

Scientific Reports, 2017

Identification of DYRK1B as a substrate of ERK1/2 and characterisation of the kinase activity of DYRK1B mutants from cancer and metabolic syndrome.

Ashford AL et al.

Cellular and Molecular Life Sciences : Cmls, 2016

DYRK1B variant linked to autosomal dominant metabolic syndrome.

Hickmott J

Clinical Genetics, 2015

Genetics: Founder mutations identified in an inherited form of the metabolic syndrome.

Holmes D

Nature Reviews. Endocrinology, 2014

A form of the metabolic syndrome associated with mutations in DYRK1B.

Keramati AR et al.

The New England Journal of Medicine, 2014

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