ARID1A c.4391dup ;(p.S1465Lfs*26)

Variant ID: 1-27101108-G-GT

NM_006015.4(ARID1A):c.4391dup;(p.S1465Lfs*26)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic mutation features identify distinct BRCA-associated mutation characteristics in endometrioid carcinoma and endometrioid ovarian carcinoma.

Aging
Cao, Canhui C; Yu, Ruidi R; Gong, Wenjian W; Liu, Dan D; Zhang, Xiaoxue X; Fang, Yong Y; Xia, Yu Y; Zhang, Wei W; Gao, Qinglei Q
Publication Date: 2021-11-27

Variant appearance in text: ARID1A: 4391dup
PubMed Link: 34837690
Variant Present in the following documents:
  • aging-13-203710-s004.xlsx, sheet 1
View BVdb publication page



A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Nature Communications
Liu, Jing J; Ottaviani, Daniela D; Sefta, Meriem M; Desbrousses, Céline C; Chapeaublanc, Elodie E; Aschero, Rosario R; Sirab, Nanor N; Lubieniecki, Fabiana F; Lamas, Gabriela G; Tonon, Laurie L; Dehainault, Catherine C; Hua, Clément C; Fréneaux, Paul P; Reichman, Sacha S; Karboul, Narjesse N; Biton, Anne A; Mirabal-Ortega, Liliana L; Larcher, Magalie M; Brulard, Céline C; Arrufat, Sandrine S; Nicolas, André A; Elarouci, Nabila N; Popova, Tatiana T; Némati, Fariba F; Decaudin, Didier D; Gentien, David D; Baulande, Sylvain S; Mariani, Odette O; Dufour, Florent F; Guibert, Sylvain S; Vallot, Céline C; Rouic, Livia Lumbroso-Le LL; Matet, Alexandre A; Desjardins, Laurence L; Pascual-Pasto, Guillem G; Suñol, Mariona M; Catala-Mora, Jaume J; Llano, Genoveva Correa GC; Couturier, Jérôme J; Barillot, Emmanuel E; Schaiquevich, Paula P; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Golmard, Lisa L; Houdayer, Claude C; Brisse, Hervé H; Bernard-Pierrot, Isabelle I; Letouzé, Eric E; Viari, Alain A; Saule, Simon S; Sastre-Garau, Xavier X; Doz, François F; Carcaboso, Angel M AM; Cassoux, Nathalie N; Pouponnot, Celio C; Goureau, Olivier O; Chantada, Guillermo G; de Reyniès, Aurélien A; Aerts, Isabelle I; Radvanyi, François F
Publication Date: 2021-09-22

Variant appearance in text: ARID1A: 4391dupT
PubMed Link: 34552068
Variant Present in the following documents:
  • 41467_2021_25792_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page