Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPH1
Variant:p.R206W
Back to variants list

HNRNPH1

NM_001257293.2:p.R206W

Associated Papers

hnRNPH1: A Multifaceted Regulator in RNA Processing and Disease Pathogenesis.

Zhu L et al.

International Journal of Molecular Sciences, 2025

A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders.

Gonzalez A et al.

Structure (london, England : 1993), 2023

A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 is linked to neurodevelopmental disorders.

Gonzalez A et al.

Biorxiv : the Preprint Server for Biology, 2023

Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish.

Ouyang J et al.

Clinical Genetics, 2022

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.

Bain JM et al.

Neurology. Genetics, 2021

DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.

Peeters S et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Reichert SC et al.

Clinical Genetics, 2020

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC06

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

Pilch J et al.

Clinical Genetics, 2018

The HNRNPF/H RNA binding proteins and disease.

Brownmiller T et al.

Wiley Interdisciplinary Reviews. Rna, 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."