CDH1 c.1042G>A ;(p.A348T)

Variant ID: 16-68846071-G-A

NM_004360.3(CDH1):c.1042G>A;(p.A348T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: CDH1: A348T
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.

Science Translational Medicine
Solyom, Szilvia S; Aressy, Bernadette B; Pylkäs, Katri K; Patterson-Fortin, Jeffrey J; Hartikainen, Jaana M JM; Kallioniemi, Anne A; Kauppila, Saila S; Nikkilä, Jenni J; Kosma, Veli-Matti VM; Mannermaa, Arto A; Greenberg, Roger A RA; Winqvist, Robert R
Publication Date: 2012-02-22

Variant appearance in text: CDH1: 1042G>A; Ala348Thr
PubMed Link: 22357538
Variant Present in the following documents:
  • Main text
View BVdb publication page