ARID1A c.1534C>T ;(p.Q512*)

Variant ID: 1-27057826-C-T

NM_006015.4(ARID1A):c.1534C>T;(p.Q512*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

Clinical Epigenetics
El Khoury, Louis Y LY; Pan, Xiaoyu X; Hlady, Ryan A RA; Wagner, Ryan T RT; Shaikh, Shafiq S; Wang, Liguo L; Humphreys, Mitchell R MR; Castle, Erik P EP; Stanton, Melissa L ML; Ho, Thai H TH; Robertson, Keith D KD
Publication Date: 2023-04-29

Variant appearance in text: ARID1A: Q512X
PubMed Link: 37120552
Variant Present in the following documents:
  • 13148_2023_1471_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27

Variant appearance in text: ARID1A: 1534C>T; Q512*
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
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: Q512*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: ARID1A: 1534C>T; Q512*
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

International Journal Of Cancer
Reijnen, Casper C; Küsters-Vandevelde, Heidi V N HVN; Ligtenberg, Marjolijn J L MJL; Bulten, Johan J; Oosterwegel, Marloes M; Snijders, Marc P L M MPLM; Sweegers, Sanne S; de Hullu, Joanne A JA; Vos, Maria C MC; van der Wurff, Anneke A M AAM; van Altena, Anne M AM; Eijkelenboom, Astrid A; Pijnenborg, Johanna M A JMA
Publication Date: 2020-07-15

Variant appearance in text: ARID1A: 1534C>T; Gln512*
PubMed Link: 32022266
Variant Present in the following documents:
  • IJC-147-478-s001.pdf
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: 1534C>T; Q512*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrative genomic analysis of adult mixed phenotype acute leukemia delineates lineage associated molecular subtypes.

Nature Communications
Takahashi, Koichi K; Wang, Feng F; Morita, Kiyomi K; Yan, Yuanqing Y; Hu, Peter P; Zhao, Pei P; Zhar, Abdallah Abou AA; Wu, Chang Jiun CJ; Gumbs, Curtis C; Little, Latasha L; Tippen, Samantha S; Thornton, Rebecca R; Coyle, Marcus M; Mendoza, Marisela M; Thompson, Erika E; Zhang, Jianhua J; DiNardo, Courtney D CD; Jain, Nitin N; Ravandi, Farhad F; Cortes, Jorge E JE; Garcia-Manero, Guillermo G; Kornblau, Steven S; Andreeff, Michael M; Jabbour, Elias E; Bueso-Ramos, Carlos C; Takaori-Kondo, Akifumi A; Konopleva, Marina M; Patel, Keyur K; Kantarjian, Hagop H; Futreal, P Andrew PA
Publication Date: 2018-07-10

Variant appearance in text: ARID1A: Q512X
PubMed Link: 29991687
Variant Present in the following documents:
  • 41467_2018_4924_MOESM1_ESM.pdf
View BVdb publication page



Optimised ARID1A immunohistochemistry is an accurate predictor of ARID1A mutational status in gynaecological cancers.

The Journal Of Pathology. Clinical Research
Khalique, Saira S; Naidoo, Kalnisha K; Attygalle, Ayoma D AD; Kriplani, Divya D; Daley, Frances F; Lowe, Anne A; Campbell, James J; Jones, Thomas T; Hubank, Michael M; Fenwick, Kerry K; Matthews, Nicholas N; Rust, Alistair G AG; Lord, Christopher J CJ; Banerjee, Susana S; Natrajan, Rachael R
Publication Date: 2018-07

Variant appearance in text: ARID1A: Gln512Ter
PubMed Link: 29659191
Variant Present in the following documents:
  • Main text
  • CJP2-4-154-s007.xlsx, sheet 1
  • CJP2-4-154.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: ARID1A: Q512*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

International Journal Of Biological Sciences
Chou, Wen-Chi WC; Lin, Po-Han PH; Yeh, Yi-Chen YC; Shyr, Yi-Ming YM; Fang, Wen-Liang WL; Wang, Shin-E SE; Liu, Chun-Yu CY; Chang, Peter Mu-Hsin PM; Chen, Ming-Han MH; Hung, Yi-Ping YP; Li, Chung-Pin CP; Chao, Yee Y; Chen, Ming-Huang MH
Publication Date: 2016

Variant appearance in text: ARID1A: Q512X
PubMed Link: 27994516
Variant Present in the following documents:
  • ijbsv12p1523s1.xls, sheet 1
  • ijbsv12p1523s2.pdf
View BVdb publication page