Varaico: Literature-Extracted Genetic Variants

Gene:DIS3L2
Variant:p.R483G
Back to variants list

DIS3L2

NM_152383.5:p.R483G

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Borja NA et al.

Frontiers in Oncology, 2023

36865800 (PubMed )
Supplement: DataSheet_1.pdf

Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder.

Marques AR et al.

Biomedicines, 2022

35327467 (PubMed )
Supplement: biomedicines-10-00665-s001.zip › Supplementary_tables.xlsx › Suppl_Table_S3

Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.

Bakos B et al.

Bmc Cancer, 2021

Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.

Brzezinski J et al.

British Journal of Cancer, 2021

33012783 (PubMed )
Supplement: 41416_2020_1102_MOESM8_ESM.xlsx › Sheet1

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS

Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Staninova-Stojovska M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

Kutasovic JR et al.

The Journal of Pathology. Clinical Research, 2019

30246500 (PubMed )
Supplement: CJP2-5-25-s002.xlsx › SupTable_11__Sequencing_data

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour.

Torrezan GT et al.

Nature Communications, 2014

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

Morris MR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Astuti D et al.

Nature Genetics, 2012

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."