FURIN c.*124C>T

Variant ID: 15-91425232-C-T

NM_002569.2(FURIN):c.*124C>T

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs6227
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Association between trauma exposure and respiratory disease-A Mendelian randomization study.

Frontiers In Endocrinology
Ma, Yuchao Y; Meng, Changjiang C; Weng, Liang L
Publication Date: 2022

Variant appearance in text: rs6227
PubMed Link: 36133309
Variant Present in the following documents:
  • Main text
  • fendo-13-1001223.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs6227
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Prediction of HF-Related Mortality Risk Using Genetic Risk Score Alone and in Combination With Traditional Risk Factors.

Frontiers In Cardiovascular Medicine
Hu, Dong D; Xiao, Lei L; Li, Shiyang S; Hu, Senlin S; Sun, Yang Y; Wang, Yan Y; Wang, Dao Wen DW
Publication Date: 2021

Variant appearance in text: rs6227
PubMed Link: 33981732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs6227
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: rs6227
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Mouse Models of Human Proprotein Convertase Insufficiency.

Endocrine Reviews
Shakya, Manita M; Lindberg, Iris I
Publication Date: 2021-05-25

Variant appearance in text: rs6227
PubMed Link: 33382413
Variant Present in the following documents:
  • Main text
View BVdb publication page



FURIN variant associations with postexercise hypotension are intensity and race dependent.

Physiological Reports
Cilhoroz, Burak T BT; Schifano, Elizabeth D ED; Panza, Gregory A GA; Ash, Garrett I GI; Corso, Lauren L; Chen, Ming-Hui MH; Deshpande, Ved V; Zaleski, Amanda A; Farinatti, Paulo P; Santos, Lucas P LP; Taylor, Beth A BA; O'Neill, Rachel J RJ; Thompson, Paul D PD; Pescatello, Linda S LS
Publication Date: 2019-02

Variant appearance in text: rs6227
PubMed Link: 30706700
Variant Present in the following documents:
  • Main text
  • PHY2-7-e13952.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs6227
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Genetics of the first seven proprotein convertase enzymes in health and disease.

Current Genomics
Turpeinen, Hannu H; Ortutay, Zsuzsanna Z; Pesu, Marko M
Publication Date: 2013-11

Variant appearance in text: rs6227
PubMed Link: 24396277
Variant Present in the following documents:
  • Main text
  • CG-14-453.pdf
View BVdb publication page



Loci influencing blood pressure identified using a cardiovascular gene-centric array.

Human Molecular Genetics
Ganesh, Santhi K SK; Tragante, Vinicius V; Guo, Wei W; Guo, Yiran Y; Lanktree, Matthew B MB; Smith, Erin N EN; Johnson, Toby T; Castillo, Berta Almoguera BA; Barnard, John J; Baumert, Jens J; Chang, Yen-Pei Christy YP; Elbers, Clara C CC; Farrall, Martin M; Fischer, Mary E ME; Franceschini, Nora N; Gaunt, Tom R TR; Gho, Johannes M I H JM; Gieger, Christian C; Gong, Yan Y; Isaacs, Aaron A; Kleber, Marcus E ME; Mateo Leach, Irene I; McDonough, Caitrin W CW; Meijs, Matthijs F L MF; Mellander, Olle O; Molony, Cliona M CM; Nolte, Ilja M IM; Padmanabhan, Sandosh S; Price, Tom S TS; Rajagopalan, Ramakrishnan R; Shaffer, Jonathan J; Shah, Sonia S; Shen, Haiqing H; Soranzo, Nicole N; van der Most, Peter J PJ; Van Iperen, Erik P A EP; Van Setten, Jessica J; Van Setten, Jessic A JA; Vonk, Judith M JM; Zhang, Li L; Beitelshees, Amber L AL; Berenson, Gerald S GS; Bhatt, Deepak L DL; Boer, Jolanda M A JM; Boerwinkle, Eric E; Burkley, Ben B; Burt, Amber A; Chakravarti, Aravinda A; Chen, Wei W; Cooper-Dehoff, Rhonda M RM; Curtis, Sean P SP; Dreisbach, Albert A; Duggan, David D; Ehret, Georg B GB; Fabsitz, Richard R RR; Fornage, Myriam M; Fox, Ervin E; Furlong, Clement E CE; Gansevoort, Ron T RT; Hofker, Marten H MH; Hovingh, G Kees GK; Kirkland, Susan A SA; Kottke-Marchant, Kandice K; Kutlar, Abdullah A; Lacroix, Andrea Z AZ; Langaee, Taimour Y TY; Li, Yun R YR; Lin, Honghuang H; Liu, Kiang K; Maiwald, Steffi S; Malik, Rainer R; , ; Murugesan, Gurunathan G; Newton-Cheh, Christopher C; O'Connell, Jeffery R JR; Onland-Moret, N Charlotte NC; Ouwehand, Willem H WH; Palmas, Walter W; Penninx, Brenda W BW; Pepine, Carl J CJ; Pettinger, Mary M; Polak, Joseph F JF; Ramachandran, Vasan S VS; Ranchalis, Jane J; Redline, Susan S; Ridker, Paul M PM; Rose, Lynda M LM; Scharnag, Hubert H; Schork, Nicholas J NJ; Shimbo, Daichi D; Shuldiner, Alan R AR; Srinivasan, Sathanur R SR; Stolk, Ronald P RP; Taylor, Herman A HA; Thorand, Barbara B; Trip, Mieke D MD; van Duijn, Cornelia M CM; Verschuren, W Monique WM; Wijmenga, Cisca C; Winkelmann, Bernhard R BR; Wyatt, Sharon S; Young, J Hunter JH; Boehm, Bernhard O BO; Caulfield, Mark J MJ; Chasman, Daniel I DI; Davidson, Karina W KW; Doevendans, Pieter A PA; Fitzgerald, Garret A GA; Gums, John G JG; Hakonarson, Hakon H; Hillege, Hans L HL; Illig, Thomas T; Jarvik, Gail P GP; Johnson, Julie A JA; Kastelein, John J P JJ; Koenig, Wolfgang W; , ; März, Winfried W; Mitchell, Braxton D BD; Murray, Sarah S SS; Oldehinkel, Albertine J AJ; Rader, Daniel J DJ; Reilly, Muredach P MP; Reiner, Alex P AP; Schadt, Eric E EE; Silverstein, Roy L RL; Snieder, Harold H; Stanton, Alice V AV; Uitterlinden, André G AG; van der Harst, Pim P; van der Schouw, Yvonne T YT; Samani, Nilesh J NJ; Johnson, Andrew D AD; Munroe, Patricia B PB; de Bakker, Paul I W PI; Zhu, Xiaofeng X; Levy, Daniel D; Keating, Brendan J BJ; Asselbergs, Folkert W FW
Publication Date: 2013-04-15

Variant appearance in text: rs6227
PubMed Link: 23303523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between genetic variations in the FURIN gene and hypertension.

Bmc Medical Genetics
Li, Nanfang N; Luo, Wenli W; Juhong, Zhang Z; Yang, Jin J; Wang, Hongmei H; Zhou, Ling L; Chang, Jianhang J
Publication Date: 2010-08-13

Variant appearance in text: rs6227
PubMed Link: 20707915
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-124.pdf
View BVdb publication page