ARID1A c.3785G>A ;(p.R1262H)

Variant ID: 1-27099906-G-A

NM_006015.4(ARID1A):c.3785G>A;(p.R1262H)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Mismatch Repair Deficient Glioma with Spatially Distinct IDH-mutant and IDH-Wildtype Components Arising in the Setting of Lynch Syndrome.

Cold Spring Harbor Molecular Case Studies
Tan, Hao H; Nerison, Caleb C; Stateler, Cooper C; Bowden, Stephen G SG; Raslan, Ahmed M AM; Ambady, Prakash P; Barajas, Ramon F RF; Wood, Matthew D MD
Publication Date: 2023-04-19

Variant appearance in text: ARID1A: 3785G>A; R1262H
PubMed Link: 37076313
Variant Present in the following documents:
  • supp_mcs.a006280_Supplemental_Table_1.xlsx, sheet 1
View BVdb publication page



Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Jama Network Open
Liu, Ze-Xian ZX; Zhang, Xiao-Long XL; Zhao, Qi Q; Chen, Yungchang Y; Sheng, Hui H; He, Cai-Yun CY; Sun, Yu-Ting YT; Lai, Ming-Yu MY; Wu, Min-Qing MQ; Zuo, Zhi-Xiang ZX; Wang, Wei W; Zhou, Zhi-Wei ZW; Wang, Feng-Hua FH; Li, Yu-Hong YH; Xu, Rui-Hua RH; Qiu, Miao-Zhen MZ
Publication Date: 2022-12-01

Variant appearance in text: ARID1A: R1262H
PubMed Link: 36484990
Variant Present in the following documents:
  • jamanetwopen-e2245836-s002.xlsx, sheet 3
  • jamanetwopen-e2245836-s002.xlsx, sheet 5
View BVdb publication page



Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.

Gynecologic Oncology Reports
Sanders, Brooke E BE; Wolsky, Rebecca R; Doughty, Elizabeth S ES; Wells, Kristen L KL; Ghosh, Debashis D; Ku, Lisa L; Pressey, Joseph G JG; Bitler, Benjamin B BB; Brubaker, Lindsay W LW
Publication Date: 2022-12

Variant appearance in text: ARID1A: R1262H
PubMed Link: 36249907
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022

Variant appearance in text: ARID1A: 3785G>A; R1262H
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.

Journal Of Molecular Biology
Deák, Gauri G; Cook, Atlanta G AG
Publication Date: 2022-05-15

Variant appearance in text: rs140125151
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: ARID1A: R1262H
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 2
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: ARID1A: R1262H
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ARID1A: 3785G>A; R1262H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: ARID1A: R1262H
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page