Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.H51R
Back to variants list

PMP22

NM_000304.4:p.H51R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA

A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.

Agrahari AK et al.

Journal of Cellular Biochemistry, 2017

Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.

Kumar CV et al.

Advances in Bioinformatics, 2014

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."