CDH1 c.731A>G ;(p.D244G)

Variant ID: 16-68844143-A-G

NM_004360.3(CDH1):c.731A>G;(p.D244G)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: D244G
PubMed Link: 33809393
Variant Present in the following documents:
  • Main text
  • cancers-13-01269-s001.pdf
View BVdb publication page



CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Genes
Selvanathan, Arthavan A; Nixon, Cheng Yee CY; Zhu, Ying Y; Scietti, Luigi L; Forneris, Federico F; Uribe, Lina M Moreno LMM; Lidral, Andrew C AC; Jezewski, Peter A PA; Mulliken, John B JB; Murray, Jeffrey C JC; Buckley, Michael F MF; Cox, Timothy C TC; Roscioli, Tony T
Publication Date: 2020-04-03

Variant appearance in text: CDH1: D244G
PubMed Link: 32260281
Variant Present in the following documents:
  • Main text
  • genes-11-00391.pdf
View BVdb publication page



Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.

Oncotarget
Busch, Evan L EL; Hornick, Jason L JL; Umeton, Renato R; Albayrak, Adem A; Lindeman, Neal I NI; MacConaill, Laura E LE; Garcia, Elizabeth P EP; Ducar, Matthew M; Rebbeck, Timothy R TR
Publication Date: 2017-10-17

Variant appearance in text: CDH1: 731A>G; D244G
PubMed Link: 29156750
Variant Present in the following documents:
  • oncotarget-08-85680-s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CDH1: D244G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: CDH1: D244G
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.

Plos One
Simões-Correia, Joana J; Figueiredo, Joana J; Lopes, Rui R; Stricher, François F; Oliveira, Carla C; Serrano, Luis L; Seruca, Raquel R
Publication Date: 2012

Variant appearance in text: CDH1: 731A>G; D244G
PubMed Link: 22470475
Variant Present in the following documents:
  • Main text
View BVdb publication page