Varaico: Literature-Extracted Genetic Variants

Gene:HCN2
Variant:p.R76H
Back to variants list

HCN2

NM_001194.4:p.R76H

Associated Papers

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM7_ESM.xlsx › SNV

Long-read trio sequencing of individuals with unsolved intellectual disability.

Pauper M et al.

European Journal of Human Genetics : Ejhg, 2021

33257779 (PubMed )
Supplement: 41431_2020_770_MOESM3_ESM.xlsx › Table_S21

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s003.xlsx › MSS

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

Desai A et al.

Bmc Musculoskeletal Disorders, 2016

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."