USP4 c.34G>T ;(p.D12Y)

Variant ID: 3-49377424-C-A

NM_003363.3(USP4):c.34G>T;(p.D12Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Frontiers In Oncology
Olkinuora, Alisa Petriina AP; Mayordomo, Andrea Constanza AC; Kauppinen, Anni Katariina AK; Cerliani, María Belén MB; Coraglio, Mariana M; Collia, Ávila Karina ÁK; Gutiérrez, Alejandro A; Alvarez, Karin K; Cassana, Alessandra A; Lopéz-Köstner, Francisco F; Jauk, Federico F; García-Rivello, Hernán H; Ristimäki, Ari A; Koskenvuo, Laura L; Lepistö, Anna A; Nieminen, Taina Tuulikki TT; Vaccaro, Carlos Alberto CA; Pavicic, Walter Hernán WH; Peltomäki, Päivi P
Publication Date: 2022

Variant appearance in text: USP4: 34G>T; Asp12Tyr
PubMed Link: 36387175
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: USP4: D12Y
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page