Varaico: Literature-Extracted Genetic Variants

Gene:MBD4
Variant:p.C61R
Back to variants list

MBD4

NM_001276270.2:p.C61R

Associated Papers

MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes.

Terradas M et al.

European Journal of Human Genetics : Ejhg, 2023

Germline MBD4 Mutations and Predisposition to Uveal Melanoma.

Derrien AC et al.

Journal of the National Cancer Institute, 2021

Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma.

Repo P et al.

Pigment Cell & Melanoma Research, 2020

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A049-01A.domain

MBD4 mutations are rare in gastric carcinomas with microsatellite instability.

Pinto M et al.

Cancer Genetics and Cytogenetics, 2003

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."