BRCA2 c.188A>G ;(p.K63R)

Variant ID: 13-32893334-A-G

NM_000059.3(BRCA2):c.188A>G;(p.K63R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: K63R
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prostate cancer-associated SPOP mutations lead to genomic instability through disruption of the SPOP-HIPK2 axis.

Nucleic Acids Research
Jin, Xiaofeng X; Qing, Shi S; Li, Qian Q; Zhuang, Hui H; Shen, Liliang L; Li, Jinhui J; Qi, Honggang H; Lin, Ting T; Lin, Zihan Z; Wang, Jian J; Cao, Xinyi X; Yang, Jianye J; Ma, Qi Q; Cong, Linghua L; Xi, Yang Y; Fang, Shuai S; Meng, Xiaodan X; Gong, Zhaohui Z; Ye, Meng M; Wang, Shuyun S; Wang, Chenji C; Gao, Kun K
Publication Date: 2021-07-09

Variant appearance in text: BRCA2: K63R
PubMed Link: 34133717
Variant Present in the following documents:
  • Main text
  • gkab489.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 188A>G; Lys63Arg
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



SKP2 promotes breast cancer tumorigenesis and radiation tolerance through PDCD4 ubiquitination.

Journal Of Experimental & Clinical Cancer Research : Cr
Li, Ce C; Du, Lutao L; Ren, Yidan Y; Liu, Xiaoyan X; Jiao, Qinlian Q; Cui, Donghai D; Wen, Mingxin M; Wang, Chuanxin C; Wei, Guangwei G; Wang, Yunshan Y; Ji, Aiguo A; Wang, Qin Q
Publication Date: 2019-02-13

Variant appearance in text: BRCA2: K63R
PubMed Link: 30760284
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterozygous deletion of chromosome 17p renders prostate cancer vulnerable to inhibition of RNA polymerase II.

Nature Communications
Li, Yujing Y; Liu, Yunhua Y; Xu, Hanchen H; Jiang, Guanglong G; Van der Jeught, Kevin K; Fang, Yuanzhang Y; Zhou, Zhuolong Z; Zhang, Lu L; Frieden, Michael M; Wang, Lifei L; Luo, Zhenhua Z; Radovich, Milan M; Schneider, Bryan P BP; Deng, Yibin Y; Liu, Yunlong Y; Huang, Kun K; He, Bin B; Wang, Jin J; He, Xiaoming X; Zhang, Xinna X; Ji, Guang G; Lu, Xiongbin X
Publication Date: 2018-10-22

Variant appearance in text: BRCA2: K63R
PubMed Link: 30349055
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: K63R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



The Emerging Role of Non-traditional Ubiquitination in Oncogenic Pathways.

The Journal Of Biological Chemistry
Dwane, Lisa L; Gallagher, William M WM; Ní Chonghaile, Tríona T; O'Connor, Darran P DP
Publication Date: 2017-03-03

Variant appearance in text: BRCA2: K63R
PubMed Link: 28154183
Variant Present in the following documents:
  • Main text
View BVdb publication page



A phosphorylation-deubiquitination cascade regulates the BRCA2-RAD51 axis in homologous recombination.

Genes & Development
Luo, Kuntian K; Li, Lei L; Li, Yunhui Y; Wu, Chenming C; Yin, Yujiao Y; Chen, Yuping Y; Deng, Min M; Nowsheen, Somaira S; Yuan, Jian J; Lou, Zhenkun Z
Publication Date: 2016-12-01

Variant appearance in text: BRCA2: K63R
PubMed Link: 27941124
Variant Present in the following documents:
  • 2581.pdf
View BVdb publication page



PRP19 transforms into a sensor of RPA-ssDNA after DNA damage and drives ATR activation via a ubiquitin-mediated circuitry.

Molecular Cell
Maréchal, Alexandre A; Li, Ju-Mei JM; Ji, Xiao Ye XY; Wu, Ching-Shyi CS; Yazinski, Stephanie A SA; Nguyen, Hai Dang HD; Liu, Shizhou S; Jiménez, Amanda E AE; Jin, Jianping J; Zou, Lee L
Publication Date: 2014-01-23

Variant appearance in text: BRCA2: K63R
PubMed Link: 24332808
Variant Present in the following documents:
  • Main text
View BVdb publication page



The proteasomal de-ubiquitinating enzyme POH1 promotes the double-strand DNA break response.

The Embo Journal
Butler, Laura R LR; Densham, Ruth M RM; Jia, Junying J; Garvin, Alexander J AJ; Stone, Helen R HR; Shah, Vandna V; Weekes, Daniel D; Festy, Frederic F; Beesley, James J; Morris, Joanna R JR
Publication Date: 2012-10-03

Variant appearance in text: BRCA2: K63R
PubMed Link: 22909820
Variant Present in the following documents:
  • Main text
View BVdb publication page