Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.K1245insFs
Back to variants list

CHD2

NM_001271.4:p.K1245insFs

Associated Papers

Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas.

Das S et al.

Communications Biology, 2025

41353477 (PubMed )
Supplement: 42003_2025_9225_MOESM3_ESM.xlsx › Supplementary_Data_8

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.

Coppola A et al.

Epilepsia, 2024

Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Wang Y et al.

Translational Vision Science & Technology, 2023

36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S4-Indels

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy.

Feng W et al.

Pediatric Investigation, 2022

A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Zhu L et al.

Frontiers in Genetics, 2022

35222528 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_S1.xlsx › single-nucleotide_or_indel

Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms.

Luo X et al.

Frontiers in Cell and Developmental Biology, 2022

Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Ramberg I et al.

Investigative Ophthalmology & Visual Science, 2021

34779821 (PubMed )
Supplement: iovs-62-14-11_s001.pdf

Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors.

Chmielecki J et al.

Nature Genetics, 2013

23313954 (PubMed )
Supplement: NIHMS474988-supplement-1.pdf

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

Kerr M et al.

Molecular Genetics and Metabolism, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."