Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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