BRCA2 c.774_775insT ;(p.R259*)

Variant ID: 13-32905148-A-AT

NM_000059.3(BRCA2):c.774_775insT;(p.R259*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics
Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H
Publication Date: 2021

Variant appearance in text: BRCA2: R259fs
PubMed Link: 34158843
Variant Present in the following documents:
  • thnov11p7175s3.xlsx, sheet 1
View BVdb publication page



Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
Publication Date: 2017-11

Variant appearance in text: BRCA2: R259fs
PubMed Link: 28991257
Variant Present in the following documents:
  • NIHMS906719-supplement-supp_datasets.xlsx, sheet 7
View BVdb publication page