ARID1A c.3760G>A ;(p.G1254S)

Variant ID: 1-27099881-G-A

NM_006015.4(ARID1A):c.3760G>A;(p.G1254S)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: ARID1A: 3760G>A; Gly1254Ser
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: ARID1A: G1254S
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: rs139907456
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes.

Annals Of Translational Medicine
Li, Xiaoyang X; Zheng, Yongsheng Y; Li, Shaoyuan S; Nair, Umesh U; Sun, Chong C; Zhao, Chongbo C; Lu, Jiahong J; Zhang, Victor Wei VW; Maljevic, Snezana S; Petrou, Steven S; Lin, Jie J
Publication Date: 2021-09

Variant appearance in text: ARID1A: 3760G>A; G1254S
PubMed Link: 34733949
Variant Present in the following documents:
  • Main text
  • atm-09-18-1397.pdf
View BVdb publication page



Single-Cell Transcriptome Analysis Uncovers Intratumoral Heterogeneity and Underlying Mechanisms for Drug Resistance in Hepatobiliary Tumor Organoids.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Zhao, Yan Y; Li, Zhi-Xuan ZX; Zhu, Yan-Jing YJ; Fu, Jing J; Zhao, Xiao-Fang XF; Zhang, Ya-Ni YN; Wang, Shan S; Wu, Jian-Min JM; Wang, Kai-Ting KT; Wu, Rui R; Sui, Cheng-Jun CJ; Shen, Si-Yun SY; Wu, Xuan X; Wang, Hong-Yang HY; Gao, Dong D; Chen, Lei L
Publication Date: 2021-06

Variant appearance in text: ARID1A: G1254S; rs139907456
PubMed Link: 34105295
Variant Present in the following documents:
  • ADVS-8-2003897-s001.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ARID1A: G1254S; rs139907456
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genomic profiling of Chinese patients with urothelial carcinoma.

Bmc Cancer
Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S
Publication Date: 2021-02-15

Variant appearance in text: ARID1A: 3760G>A; Gly1254Ser; rs139907456
PubMed Link: 33588785
Variant Present in the following documents:
  • 12885_2021_7829_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology
Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J
Publication Date: 2021-02-05

Variant appearance in text: ARID1A: 3760G>A; G1254S
PubMed Link: 33546774
Variant Present in the following documents:
  • 40164_2021_200_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A case report on concurrent occurrence of systemic mastocytosis and myeloid sarcoma presenting with extensive skin involvements and the results of genetic study.

Medicine
Wang, Xinye X; Zhang, Lu L; Zhou, Daobin D; Cai, Hao H; Wang, Xuan X; Jiang, Xianyong X
Publication Date: 2020-12-11

Variant appearance in text: ARID1A: G1254S
PubMed Link: 33327223
Variant Present in the following documents:
  • Main text
  • medi-99-e21948.pdf
View BVdb publication page



Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Molecular Genetics & Genomic Medicine
Chen, Zhanhong Z; Sun, Tian T; Yang, Ziyan Z; Zheng, Yabing Y; Yu, Ruoying R; Wu, Xue X; Yan, Junrong J; Shao, Yang W YW; Shao, Xiying X; Cao, Wenming W; Wang, Xiaojia X
Publication Date: 2020-02

Variant appearance in text: ARID1A: 3760G>A; G1254S
PubMed Link: 31867841
Variant Present in the following documents:
  • MGG3-8-e1079-s004.xlsx, sheet 1
View BVdb publication page