BRCA2 c.2476G>T ;(p.E826*)

Variant ID: 13-32910968-G-T

NM_000059.3(BRCA2):c.2476G>T;(p.E826*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Bmc Cancer
Sun, Peng P; Li, Yue Y; Chao, Xue X; Li, Jibin J; Luo, Rongzhen R; Li, Mei M; He, Jiehua J
Publication Date: 2020-10-14

Variant appearance in text: BRCA2: E826*
PubMed Link: 33054725
Variant Present in the following documents:
  • 12885_2020_7481_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: BRCA2: E826*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: 2476G>T; Glu826X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: BRCA2: 2476G>T; E826*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: BRCA2: Glu826Ter
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genome Modeling System: A Knowledge Management Platform for Genomics.

Plos Computational Biology
Griffith, Malachi M; Griffith, Obi L OL; Smith, Scott M SM; Ramu, Avinash A; Callaway, Matthew B MB; Brummett, Anthony M AM; Kiwala, Michael J MJ; Coffman, Adam C AC; Regier, Allison A AA; Oberkfell, Ben J BJ; Sanderson, Gabriel E GE; Mooney, Thomas P TP; Nutter, Nathaniel G NG; Belter, Edward A EA; Du, Feiyu F; Long, Robert L RL; Abbott, Travis E TE; Ferguson, Ian T IT; Morton, David L DL; Burnett, Mark M MM; Weible, James V JV; Peck, Joshua B JB; Dukes, Adam A; McMichael, Joshua F JF; Lolofie, Justin T JT; Derickson, Brian R BR; Hundal, Jasreet J; Skidmore, Zachary L ZL; Ainscough, Benjamin J BJ; Dees, Nathan D ND; Schierding, William S WS; Kandoth, Cyriac C; Kim, Kyung H KH; Lu, Charles C; Harris, Christopher C CC; Maher, Nicole N; Maher, Christopher A CA; Magrini, Vincent J VJ; Abbott, Benjamin S BS; Chen, Ken K; Clark, Eric E; Das, Indraniel I; Fan, Xian X; Hawkins, Amy E AE; Hepler, Todd G TG; Wylie, Todd N TN; Leonard, Shawn M SM; Schroeder, William E WE; Shi, Xiaoqi X; Carmichael, Lynn K LK; Weil, Matthew R MR; Wohlstadter, Richard W RW; Stiehr, Gary G; McLellan, Michael D MD; Pohl, Craig S CS; Miller, Christopher A CA; Koboldt, Daniel C DC; Walker, Jason R JR; Eldred, James M JM; Larson, David E DE; Dooling, David J DJ; Ding, Li L; Mardis, Elaine R ER; Wilson, Richard K RK
Publication Date: 2015-07

Variant appearance in text: BRCA2: E826*
PubMed Link: 26158448
Variant Present in the following documents:
  • pcbi.1004274.s006.pdf
View BVdb publication page