HOXB13 c.649C>G ;(p.R217G)

Variant ID: 17-46804358-G-C

NM_006361.5(HOXB13):c.649C>G;(p.R217G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: HOXB13: 649C>G; R217G
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.

Scientific Reports
Liu, Jingjing J; Prager-van der Smissen, Wendy J C WJC; Collée, J Margriet JM; Bolla, Manjeet K MK; Wang, Qin Q; Michailidou, Kyriaki K; Dennis, Joe J; Ahearn, Thomas U TU; Aittomäki, Kristiina K; Ambrosone, Christine B CB; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arndt, Volker V; Arnold, Norbert N; Aronson, Kristan J KJ; Augustinsson, Annelie A; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bernstein, Leslie L; Bogdanova, Natalia V NV; Bogdanova-Markov, Nadja N; Bojesen, Stig E SE; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Brucker, Sara Y SY; Brüning, Thomas T; Burwinkel, Barbara B; Cai, Qiuyin Q; Cai, Hui H; Campa, Daniele D; Canzian, Federico F; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Choi, Ji-Yeob JY; Christiaens, Melissa M; Clarke, Christine L CL; , ; Couch, Fergus J FJ; Czene, Kamila K; Daly, Mary B MB; Devilee, Peter P; Dos-Santos-Silva, Isabel I; Dwek, Miriam M; Eccles, Diana M DM; Eliassen, A Heather AH; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Fritschi, Lin L; Gago-Dominguez, Manuela M; Gapstur, Susan M SM; García-Closas, Montserrat M; García-Sáenz, José A JA; Gaudet, Mia M MM; Giles, Graham G GG; Goldberg, Mark S MS; Goldgar, David E DE; Guénel, Pascal P; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Harrington, Patricia A PA; Hart, Steven N SN; Hartman, Mikael M; Hillemanns, Peter P; Hopper, John L JL; Hou, Ming-Feng MF; Hunter, David J DJ; Huo, Dezheng D; , ; Ito, Hidemi H; Iwasaki, Motoki M; Jakimovska, Milena M; Jakubowska, Anna A; John, Esther M EM; Kaaks, Rudolf R; Kang, Daehee D; Keeman, Renske R; Khusnutdinova, Elza E; Kim, Sung-Won SW; Kraft, Peter P; Kristensen, Vessela N VN; Kurian, Allison W AW; Le Marchand, Loic L; Li, Jingmei J; Lindblom, Annika A; Lophatananon, Artitaya A; Luben, Robert N RN; Lubiński, Jan J; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Mariapun, Shivaani S; Matsuo, Keitaro K; Maurer, Tabea T; Mavroudis, Dimitrios D; Meindl, Alfons A; Menon, Usha U; Milne, Roger L RL; Muir, Kenneth K; Mulligan, Anna Marie AM; Neuhausen, Susan L SL; Nevanlinna, Heli H; Offit, Kenneth K; Olopade, Olufunmilayo I OI; Olson, Janet E JE; Olsson, Håkan H; Orr, Nick N; Park, Sue K SK; Peterlongo, Paolo P; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Presneau, Nadege N; Rack, Brigitte B; Rau-Murthy, Rohini R; Rennert, Gad G; Rennert, Hedy S HS; Rhenius, Valerie V; Romero, Atocha A; Ruebner, Matthias M; Saloustros, Emmanouil E; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Scott, Christopher C; Shah, Mitul M; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Simard, Jacques J; Sohn, Christof C; Southey, Melissa C MC; Spinelli, John J JJ; Tamimi, Rulla M RM; Tapper, William J WJ; Teo, Soo H SH; Terry, Mary Beth MB; Torres, Diana D; Truong, Thérèse T; Untch, Michael M; Vachon, Celine M CM; van Asperen, Christi J CJ; Wolk, Alicja A; Yamaji, Taiki T; Zheng, Wei W; Ziogas, Argyrios A; Ziv, Elad E; Torres-Mejía, Gabriela G; Dörk, Thilo T; Swerdlow, Anthony J AJ; Hamann, Ute U; Schmidt, Marjanka K MK; Dunning, Alison M AM; Pharoah, Paul D P PDP; Easton, Douglas F DF; Hooning, Maartje J MJ; Martens, John W M JWM; Hollestelle, Antoinette A
Publication Date: 2020-06-16

Variant appearance in text: rs139475791
PubMed Link: 32546843
Variant Present in the following documents:
  • Main text
View BVdb publication page



HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).

Human Genetics
Xu, Jianfeng J; Lange, Ethan M EM; Lu, Lingyi L; Zheng, Siqun L SL; Wang, Zhong Z; Thibodeau, Stephen N SN; Cannon-Albright, Lisa A LA; Teerlink, Craig C CC; Camp, Nicola J NJ; Johnson, Anna M AM; Zuhlke, Kimberly A KA; Stanford, Janet L JL; Ostrander, Elaine A EA; Wiley, Kathleen E KE; Isaacs, Sarah D SD; Walsh, Patrick C PC; Maier, Christiane C; Luedeke, Manuel M; Vogel, Walther W; Schleutker, Johanna J; Wahlfors, Tiina T; Tammela, Teuvo T; Schaid, Daniel D; McDonnell, Shannon K SK; DeRycke, Melissa S MS; Cancel-Tassin, Geraldine G; Cussenot, Olivier O; Wiklund, Fredrik F; Grönberg, Henrik H; Eeles, Ros R; Easton, Doug D; Kote-Jarai, Zsofia Z; Whittemore, Alice S AS; Hsieh, Chih-Lin CL; Giles, Graham G GG; Hopper, John L JL; Severi, Gianluca G; Catalona, William J WJ; Mandal, Diptasri D; Ledet, Elisa E; Foulkes, William D WD; Hamel, Nancy N; Mahle, Lovise L; Moller, Pal P; Powell, Isaac I; Bailey-Wilson, Joan E JE; Carpten, John D JD; Seminara, Daniela D; Cooney, Kathleen A KA; Isaacs, William B WB; ,
Publication Date: 2013-01

Variant appearance in text: rs139475791
PubMed Link: 23064873
Variant Present in the following documents:
  • Main text
View BVdb publication page