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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page
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