ARID1A c.1258C>T ;(p.Q420*)

Variant ID: 1-27056262-C-T

NM_006015.4(ARID1A):c.1258C>T;(p.Q420*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genotypic Characteristics of Hepatoblastoma as Detected by Next Generation Sequencing and Their Correlation With Clinical Efficacy.

Frontiers In Oncology
Hu, Huimin H; Zhang, Weiling W; Zhi, Tian T; Li, Jing J; Wen, Yuan Y; Li, Fan F; Mei, Yanyan Y; Huang, Dongsheng D
Publication Date: 2021

Variant appearance in text: ARID1A: 1258C>T
PubMed Link: 34426785
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ARID1A: Q420*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: ARID1A: 1258C>T; Q420*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: ARID1A: Q420X
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Nature Medicine
Broutier, Laura L; Mastrogiovanni, Gianmarco G; Verstegen, Monique Ma MM; Francies, Hayley E HE; Gavarró, Lena Morrill LM; Bradshaw, Charles R CR; Allen, George E GE; Arnes-Benito, Robert R; Sidorova, Olga O; Gaspersz, Marcia P MP; Georgakopoulos, Nikitas N; Koo, Bon-Kyoung BK; Dietmann, Sabine S; Davies, Susan E SE; Praseedom, Raaj K RK; Lieshout, Ruby R; IJzermans, Jan N M JNM; Wigmore, Stephen J SJ; Saeb-Parsy, Kourosh K; Garnett, Mathew J MJ; van der Laan, Luc Jw LJ; Huch, Meritxell M
Publication Date: 2017-12

Variant appearance in text: ARID1A: 1258C>T; Gln420*
PubMed Link: 29131160
Variant Present in the following documents:
  • NIHMS74480-supplement-Supplementary_Dataset_4.xlsx, sheet 4
  • NIHMS74480-supplement-Supplementary_Dataset_4.xlsx, sheet 16
View BVdb publication page



Comparative genomic analysis of primary tumors and metastases in breast cancer.

Oncotarget
Bertucci, François F; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Garnier, Séverine S; Carbuccia, Nadine N; Monneur, Audrey A; Charafe-Jauffret, Emmanuelle E; Goncalves, Anthony A; Viens, Patrice P; Birnbaum, Daniel D; Chaffanet, Max M
Publication Date: 2016-05-10

Variant appearance in text: ARID1A: Q420X
PubMed Link: 27028851
Variant Present in the following documents:
  • oncotarget-07-27208-s001.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ARID1A: Q420*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Use of mutation profiles to refine the classification of endometrial carcinomas.

The Journal Of Pathology
McConechy, Melissa K MK; Ding, Jiarui J; Cheang, Maggie Cu MC; Wiegand, Kimberly K; Senz, Janine J; Tone, Alicia A; Yang, Winnie W; Prentice, Leah L; Tse, Kane K; Zeng, Thomas T; McDonald, Helen H; Schmidt, Amy P AP; Mutch, David G DG; McAlpine, Jessica N JN; Hirst, Martin M; Shah, Sohrab P SP; Lee, Cheng-Han CH; Goodfellow, Paul J PJ; Gilks, C Blake CB; Huntsman, David G DG
Publication Date: 2012-09

Variant appearance in text: ARID1A: Q420*
PubMed Link: 22653804
Variant Present in the following documents:
  • Main text
View BVdb publication page