BARD1 c.616C>A ;(p.Q206K)

Variant ID: 2-215645982-G-T

NM_000465.2(BARD1):c.616C>A;(p.Q206K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: BARD1: 616C>A; Q206K
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BARD1: 616C>A; Q206K
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: BARD1: 616C>A; Gln206Lys
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s011.xlsx, sheet 1
  • JCMM-24-4931-s008.xlsx, sheet 1
  • JCMM-24-4931-s010.xlsx, sheet 1
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Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.

Jama Oncology
Stuttgen, Kelsey K; Croessmann, Sarah S; Fetting, John J; Stearns, Vered V; Nunes, Raquel R; Connolly, Roisin M RM; Park, Ben Ho BH
Publication Date: 2019-10-01

Variant appearance in text: BARD1: 616C>A; Gln206Lys
PubMed Link: 31465090
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dualistic Role of BARD1 in Cancer.

Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08

Variant appearance in text: BARD1: Q206K
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
View BVdb publication page