DIS3L2 c.301G>T ;(p.A101S)

Variant ID: 2-232894725-G-T

NM_152383.4(DIS3L2):c.301G>T;(p.A101S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: DIS3L2: A101S; rs199857926
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility.

Oncotarget
Ciceri, Sara S; Gamba, Beatrice B; Corbetta, Paola P; Mondini, Patrizia P; Terenziani, Monica M; Catania, Serena S; Nantron, Marilina M; Bianchi, Maurizio M; D'Angelo, Paolo P; Torri, Federica F; Macciardi, Fabio F; Collini, Paola P; Di Martino, Martina M; Melchionda, Fraia F; Di Cataldo, Andrea A; Spreafico, Filippo F; Radice, Paolo P; Perotti, Daniela D; ,
Publication Date: 2018-09-25

Variant appearance in text: DIS3L2: 301G>T; Ala101Ser; rs199857926
PubMed Link: 30344923
Variant Present in the following documents:
  • Main text
  • oncotarget-09-34079.pdf
  • oncotarget-09-34079-s002.xlsx, sheet 1
View BVdb publication page