FBN1 c.493C>T ;(p.R165*)

Variant ID: 15-48888525-G-A

NM_000138.4(FBN1):c.493C>T;(p.R165*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association
Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H
Publication Date: 2023-04-12

Variant appearance in text: FBN1: Arg165Ter; rs113905529
PubMed Link: 37042257
Variant Present in the following documents:
  • JAH3-12-e028625-s001.pdf
  • JAH3-12-e028625.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FBN1: 493C>T; Arg165Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Evolutionary route of nasopharyngeal carcinoma metastasis and its clinical significance.

Nature Communications
Lin, Mei M; Zhang, Xiao-Long XL; You, Rui R; Liu, You-Ping YP; Cai, Hong-Min HM; Liu, Li-Zhi LZ; Liu, Xue-Fei XF; Zou, Xiong X; Xie, Yu-Long YL; Zou, Ru-Hai RH; Zhang, Yi-Nuan YN; Sun, Rui R; Feng, Wei-Yi WY; Wang, Hai-Yan HY; Tao, Gui-Hua GH; Li, Hao-Jiang HJ; Huang, Wen-Jie WJ; Zhang, Chao C; Huang, Pei-Yu PY; Wang, Jin J; Zhao, Qi Q; Yang, Qi Q; Zhang, Hong-Wan HW; Liu, Ting T; Li, Hui-Feng HF; Jiang, Xiao-Bing XB; Tang, Jun J; Gu, Yang-Kui YK; Yu, Tao T; Wang, Zhi-Qiang ZQ; Feng, Lin L; Kang, Tie-Bang TB; Zuo, Zhi-Xiang ZX; Chen, Ming-Yuan MY
Publication Date: 2023-02-04

Variant appearance in text: FBN1: 493C>T; R165W
PubMed Link: 36739462
Variant Present in the following documents:
  • 41467_2023_35995_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: FBN1: R165X
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics
Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S
Publication Date: 2021-12-16

Variant appearance in text: FBN1: 493C>T; Arg165*; rs113905529
PubMed Link: 34916231
Variant Present in the following documents:
  • jmedgenet-2021-108186supp001.pdf
View BVdb publication page



Quantitative proteomics reveal lineage-specific protein profiles in iPSC-derived Marfan syndrome smooth muscle cells.

Scientific Reports
Iosef, Cristiana C; Pedroza, Albert J AJ; Cui, Jason Z JZ; Dalal, Alex R AR; Arakawa, Mamoru M; Tashima, Yasushi Y; Koyano, Tiffany K TK; Burdon, Grayson G; Churovich, Samantha M P SMP; Orrick, Joshua O JO; Pariani, Mitchel M; Fischbein, Michael P MP
Publication Date: 2020-11-23

Variant appearance in text: FBN1: 493C>T
PubMed Link: 33230159
Variant Present in the following documents:
  • 41598_2020_Article_77274.pdf
View BVdb publication page



Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One
Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B
Publication Date: 2020

Variant appearance in text: FBN1: R165X; rs113905529
PubMed Link: 32492030
Variant Present in the following documents:
  • pone.0233058.s001.xlsx, sheet 18
View BVdb publication page



NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.

Plos One
Gentilini, Davide D; Oliveri, Antonino A; Fazia, Teresa T; Pini, Alessandro A; Marelli, Susan S; Bernardinelli, Luisa L; Di Blasio, Anna Maria AM
Publication Date: 2019

Variant appearance in text: FBN1: R165X
PubMed Link: 31536524
Variant Present in the following documents:
  • pone.0222506.s004.xlsx, sheet 1
View BVdb publication page



Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Molecular Genetics & Genomic Medicine
Brunelli, Luca L; Jenkins, Sabrina M SM; Gudgeon, James M JM; Bleyl, Steven B SB; Miller, Christine E CE; Tvrdik, Tatiana T; Dames, Shale A SA; Ostrander, Betsy B; Daboub, Josue A F JAF; Zielinski, Brandon A BA; Zinkhan, Erin K EK; Underhill, Hunter R HR; Wilson, Theodore T; Bonkowsky, Joshua L JL; Yost, Christian C CC; Botto, Lorenzo D LD; Jenkins, Justin J; Pysher, Theodore J TJ; Bayrak-Toydemir, Pinar P; Mao, Rong R
Publication Date: 2019-07

Variant appearance in text: FBN1: 493C>T; Arg165Cys
PubMed Link: 31192527
Variant Present in the following documents:
  • MGG3-7-e00796.pdf
View BVdb publication page