FBN1 c.*730G>T

Variant ID: 15-48702457-C-A

NM_000138.4(FBN1):c.*730G>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs13598
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs13598
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs13598
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs13598
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs13598
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs13598
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs13598
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Nature Communications
Fan, Qiao Q; Verhoeven, Virginie J M VJ; Wojciechowski, Robert R; Barathi, Veluchamy A VA; Hysi, Pirro G PG; Guggenheim, Jeremy A JA; Höhn, René R; Vitart, Veronique V; Khawaja, Anthony P AP; Yamashiro, Kenji K; Hosseini, S Mohsen SM; Lehtimäki, Terho T; Lu, Yi Y; Haller, Toomas T; Xie, Jing J; Delcourt, Cécile C; Pirastu, Mario M; Wedenoja, Juho J; Gharahkhani, Puya P; Venturini, Cristina C; Miyake, Masahiro M; Hewitt, Alex W AW; Guo, Xiaobo X; Mazur, Johanna J; Huffman, Jenifer E JE; Williams, Katie M KM; Polasek, Ozren O; Campbell, Harry H; Rudan, Igor I; Vatavuk, Zoran Z; Wilson, James F JF; Joshi, Peter K PK; McMahon, George G; St Pourcain, Beate B; Evans, David M DM; Simpson, Claire L CL; Schwantes-An, Tae-Hwi TH; Igo, Robert P RP; Mirshahi, Alireza A; Cougnard-Gregoire, Audrey A; Bellenguez, Céline C; Blettner, Maria M; Raitakari, Olli O; Kähönen, Mika M; Seppala, Ilkka I; Zeller, Tanja T; Meitinger, Thomas T; , ; Ried, Janina S JS; Gieger, Christian C; Portas, Laura L; van Leeuwen, Elisabeth M EM; Amin, Najaf N; Uitterlinden, André G AG; Rivadeneira, Fernando F; Hofman, Albert A; Vingerling, Johannes R JR; Wang, Ya Xing YX; Wang, Xu X; Tai-Hui Boh, Eileen E; Ikram, M Kamran MK; Sabanayagam, Charumathi C; Gupta, Preeti P; Tan, Vincent V; Zhou, Lei L; Ho, Candice E H CE; Lim, Wan'e W; Beuerman, Roger W RW; Siantar, Rosalynn R; Tai, E-Shyong ES; Vithana, Eranga E; Mihailov, Evelin E; Khor, Chiea-Chuen CC; Hayward, Caroline C; Luben, Robert N RN; Foster, Paul J PJ; Klein, Barbara E K BE; Klein, Ronald R; Wong, Hoi-Suen HS; Mitchell, Paul P; Metspalu, Andres A; Aung, Tin T; Young, Terri L TL; He, Mingguang M; Pärssinen, Olavi O; van Duijn, Cornelia M CM; Jin Wang, Jie J; Williams, Cathy C; Jonas, Jost B JB; Teo, Yik-Ying YY; Mackey, David A DA; Oexle, Konrad K; Yoshimura, Nagahisa N; Paterson, Andrew D AD; Pfeiffer, Norbert N; Wong, Tien-Yin TY; Baird, Paul N PN; Stambolian, Dwight D; Wilson, Joan E Bailey JE; Cheng, Ching-Yu CY; Hammond, Christopher J CJ; Klaver, Caroline C W CC; Saw, Seang-Mei SM; Rahi, Jugnoo S JS; Korobelnik, Jean-François JF; Kemp, John P JP; Timpson, Nicholas J NJ; Smith, George Davey GD; Craig, Jamie E JE; Burdon, Kathryn P KP; Fogarty, Rhys D RD; Iyengar, Sudha K SK; Chew, Emily E; Janmahasatian, Sarayut S; Martin, Nicholas G NG; MacGregor, Stuart S; Xu, Liang L; Schache, Maria M; Nangia, Vinay V; Panda-Jonas, Songhomitra S; Wright, Alan F AF; Fondran, Jeremy R JR; Lass, Jonathan H JH; Feng, Sheng S; Zhao, Jing Hua JH; Khaw, Kay-Tee KT; Wareham, Nick J NJ; Rantanen, Taina T; Kaprio, Jaakko J; Pang, Chi Pui CP; Chen, Li Jia LJ; Tam, Pancy O PO; Jhanji, Vishal V; Young, Alvin L AL; Döring, Angela A; Raffel, Leslie J LJ; Cotch, Mary-Frances MF; Li, Xiaohui X; Yip, Shea Ping SP; Yap, Maurice K H MK; Biino, Ginevra G; Vaccargiu, Simona S; Fossarello, Maurizio M; Fleck, Brian B; Yazar, Seyhan S; Tideman, Jan Willem L JW; Tedja, Milly M; Deangelis, Margaret M MM; Morrison, Margaux M; Farrer, Lindsay L; Zhou, Xiangtian X; Chen, Wei W; Mizuki, Nobuhisa N; Meguro, Akira A; Mäkelä, Kari Matti KM
Publication Date: 2016-03-29

Variant appearance in text: rs13598
PubMed Link: 27020472
Variant Present in the following documents:
  • ncomms11008-s1.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs13598
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs13598
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page