Varaico: Literature-Extracted Genetic Variants

Gene:CCND2
Variant:p.P281R
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CCND2

NM_001759.4:p.P281R

Associated Papers

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Blood, 2025

40700635 (PubMed )
Supplement: BLOOD_BLD-2025-028993-mmc2.xlsx › Supplementary_Table_6

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974131 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_6

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Zhao MF et al.

Dna and Cell Biology, 2024

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

CCND2 mutations in atypical chronic myeloid leukemia: a report of two cases.

Iaquinta G et al.

Leukemia & Lymphoma, 2023

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Pirozzi F et al.

American Journal of Medical Genetics. Part A, 2021

MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations.

Sameshima T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2020

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Dobyns WB et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Tarlock K et al.

Oncotarget, 2018

29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Nadeu F et al.

Leukemia, 2018

28924241 (PubMed )
Supplement: leu2017291x1.pdf

Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

McDermott JH et al.

Clinical Genetics, 2018

Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia.

Eisfeld AK et al.

Leukemia, 2017

The genomic landscape of core-binding factor acute myeloid leukemias.

Faber ZJ et al.

Nature Genetics, 2016

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Mirzaa G et al.

Nature Genetics, 2014

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.

Puente XS et al.

Nature, 2011

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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."