CHEK2 c.434G>C ;(p.R145P)

Variant ID: 22-29121241-C-G

NM_007194.3(CHEK2):c.434G>C;(p.R145P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: N/A
PubMed Link: 36922933
Variant Present in the following documents:
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: CHEK2: 434G>C; R145P; rs587781667
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer
Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G
Publication Date: 2019-06-03

Variant appearance in text: CHEK2: 434G>C; Arg145Pro
PubMed Link: 31159747
Variant Present in the following documents:
  • 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



dbPTM in 2019: exploring disease association and cross-talk of post-translational modifications.

Nucleic Acids Research
Huang, Kai-Yao KY; Lee, Tzong-Yi TY; Kao, Hui-Ju HJ; Ma, Chen-Tse CT; Lee, Chao-Chun CC; Lin, Tsai-Hsuan TH; Chang, Wen-Chi WC; Huang, Hsien-Da HD
Publication Date: 2019-01-08

Variant appearance in text: rs587781667
PubMed Link: 30418626
Variant Present in the following documents:
  • Main text
  • gky1074.pdf
View BVdb publication page



Deciphering Supramolecular Structures with Protein-Protein Interaction Network Modeling.

Scientific Reports
Tsuji, Toshiyuki T; Yoda, Takao T; Shirai, Tsuyoshi T
Publication Date: 2015-11-09

Variant appearance in text: CHEK2: R145P
PubMed Link: 26549015
Variant Present in the following documents:
  • srep16341-s1.pdf
View BVdb publication page



Mutations in CHEK2 associated with prostate cancer risk.

American Journal Of Human Genetics
Dong, Xiangyang X; Wang, Liang L; Taniguchi, Ken K; Wang, Xianshu X; Cunningham, Julie M JM; McDonnell, Shannon K SK; Qian, Chiping C; Marks, Angela F AF; Slager, Susan L SL; Peterson, Brett J BJ; Smith, David I DI; Cheville, John C JC; Blute, Michael L ML; Jacobsen, Steve J SJ; Schaid, Daniel J DJ; Tindall, Donald J DJ; Thibodeau, Stephen N SN; Liu, Wanguo W
Publication Date: 2003-02

Variant appearance in text: CHK2: Arg145Pro
PubMed Link: 12533788
Variant Present in the following documents:
  • Main text
View BVdb publication page