CDH1 c.820G>A ;(p.G274S)

Variant ID: 16-68844232-G-A

NM_004360.3(CDH1):c.820G>A;(p.G274S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: CDH1: G274S
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.

Cancers
Corso, Giovanni G; Corso, Federica F; Bellerba, Federica F; Carneiro, Patrícia P; Seixas, Susana S; Cioffi, Antonio A; La Vecchia, Carlo C; Magnoni, Francesca F; Bonanni, Bernardo B; Veronesi, Paolo P; Gandini, Sara S; Figueiredo, Joana J
Publication Date: 2021-03-12

Variant appearance in text: CDH1: G274S
PubMed Link: 33809393
Variant Present in the following documents:
  • Main text
  • cancers-13-01269-s001.pdf
  • cancers-13-01269.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: CDH1: 820G>A; G274S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: CDH1: 820G>A; G274S
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

European Journal Of Human Genetics : Ejhg
Sanches, João Miguel JM; Figueiredo, Joana J; Fonseca, Martina M; Durães, Cecília C; Melo, Soraia S; Esménio, Sofia S; Seruca, Raquel R
Publication Date: 2015-08

Variant appearance in text: CDH1: 820G>A; Gly274Ser
PubMed Link: 25388006
Variant Present in the following documents:
  • Main text
  • ejhg2014240a.pdf
View BVdb publication page



Identification and characterization of CDH1 germline variants in sporadic gastric cancer patients and in individuals at risk of gastric cancer.

Plos One
Garziera, Marica M; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Geremia, Silvano S; Caggiari, Laura L; De Zorzi, Mariangela M; Maiero, Stefania S; Orzes, Enrico E; Perin, Tiziana T; Zanussi, Stefania S; De Paoli, Paolo P; De Re, Valli V
Publication Date: 2013

Variant appearance in text: CDH1: G274S
PubMed Link: 24204729
Variant Present in the following documents:
  • Main text
  • pone.0077035.pdf
View BVdb publication page



Novel CDH1 germline mutations identified in Chinese gastric cancer patients.

World Journal Of Gastroenterology
Chen, Qin-Hua QH; Deng, Wei W; Li, Xiao-Wei XW; Liu, Xiu-Fang XF; Wang, Jing-Mei JM; Wang, Li-Feng LF; Xiao, Nong N; He, Qiong Q; Wang, Ya-Ping YP; Fan, Yi-Mei YM
Publication Date: 2013-02-14

Variant appearance in text: CDH1: G274S
PubMed Link: 23431106
Variant Present in the following documents:
  • Main text
View BVdb publication page