CEBPA c.568T>C ;(p.S190P)

Variant ID: 19-33792753-A-G

NM_004364.3(CEBPA):c.568T>C;(p.S190P)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: CEBPA: S190P
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: CEBPA: 568T>C; S190P
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology
Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H
Publication Date: 2022

Variant appearance in text: CEBPA: 568T>C
PubMed Link: 36425562
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: CEBPA: 568T>C; S190P
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: CEBPA: 568T>C; S190P
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian Journal Of Pediatrics
Wu, Shao-Wen SW; Li, Lin L; Feng, Fan F; Wang, Li L; Kong, Yuan-Yuan YY; Liu, Xiao-Wei XW; Yin, Chenghong C
Publication Date: 2021-07-21

Variant appearance in text: CEBPA: 568T>C; Ser190Pro; rs867463920
PubMed Link: 34289880
Variant Present in the following documents:
  • 13052_2021_1112_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: CEBPA: 568T>C; S190P
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: CEBPA: 568T>C; S190P
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: CEBPA: 568T>C; S190P; rs867463920
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer.

Scientific Reports
Hagio, Kanako K; Amano, Toraji T; Hayashi, Hideyuki H; Takeshita, Takashi T; Oshino, Tomohiro T; Kikuchi, Junko J; Ohhara, Yoshihito Y; Yabe, Ichiro I; Kinoshita, Ichiro I; Nishihara, Hiroshi H; Yamashita, Hiroko H
Publication Date: 2021-04-14

Variant appearance in text: CEBPA: S190P
PubMed Link: 33854152
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_87645.pdf
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: CEBPA: 568T>C; S190P
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s011.xlsx, sheet 1
View BVdb publication page



Gene mutation profile and risk stratification in AML1‑ETO‑positive acute myeloid leukemia based on next‑generation sequencing.

Oncology Reports
Yu, Guopan G; Yin, Changxin C; Wu, Fuqun F; Jiang, Ling L; Zheng, Zhongxin Z; Xu, Dan D; Zhou, Jiaheng J; Jiang, Xuejie X; Liu, Qifa Q; Meng, Fanyi F
Publication Date: 2019-12

Variant appearance in text: CEBPA: 568T>C; S190P
PubMed Link: 31638252
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Prediction of acute myeloid leukaemia risk in healthy individuals.

Nature
Abelson, Sagi S; Collord, Grace G; Ng, Stanley W K SWK; Weissbrod, Omer O; Mendelson Cohen, Netta N; Niemeyer, Elisabeth E; Barda, Noam N; Zuzarte, Philip C PC; Heisler, Lawrence L; Sundaravadanam, Yogi Y; Luben, Robert R; Hayat, Shabina S; Wang, Ting Ting TT; Zhao, Zhen Z; Cirlan, Iulia I; Pugh, Trevor J TJ; Soave, David D; Ng, Karen K; Latimer, Calli C; Hardy, Claire C; Raine, Keiran K; Jones, David D; Hoult, Diana D; Britten, Abigail A; McPherson, John D JD; Johansson, Mattias M; Mbabaali, Faridah F; Eagles, Jenna J; Miller, Jessica K JK; Pasternack, Danielle D; Timms, Lee L; Krzyzanowski, Paul P; Awadalla, Philip P; Costa, Rui R; Segal, Eran E; Bratman, Scott V SV; Beer, Philip P; Behjati, Sam S; Martincorena, Inigo I; Wang, Jean C Y JCY; Bowles, Kristian M KM; Quirós, J Ramón JR; Karakatsani, Anna A; La Vecchia, Carlo C; Trichopoulou, Antonia A; Salamanca-Fernández, Elena E; Huerta, José M JM; Barricarte, Aurelio A; Travis, Ruth C RC; Tumino, Rosario R; Masala, Giovanna G; Boeing, Heiner H; Panico, Salvatore S; Kaaks, Rudolf R; Krämer, Alwin A; Sieri, Sabina S; Riboli, Elio E; Vineis, Paolo P; Foll, Matthieu M; McKay, James J; Polidoro, Silvia S; Sala, Núria N; Khaw, Kay-Tee KT; Vermeulen, Roel R; Campbell, Peter J PJ; Papaemmanuil, Elli E; Minden, Mark D MD; Tanay, Amos A; Balicer, Ran D RD; Wareham, Nicholas J NJ; Gerstung, Moritz M; Dick, John E JE; Brennan, Paul P; Vassiliou, George S GS; Shlush, Liran I LI
Publication Date: 2018-07

Variant appearance in text: CEBPA: S190P
PubMed Link: 29988082
Variant Present in the following documents:
  • NIHMS77608-supplement-Supplementary_Table_2.xlsx, sheet 2
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: CEBPA: 568T>C; Ser190Pro
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 8
View BVdb publication page