BMPR2 c.637C>T ;(p.R213*)

Variant ID: 2-203383560-C-T

NM_001204.6(BMPR2):c.637C>T;(p.R213*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: BMPR2: 637C>T; Arg213Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.

Pulmonary Circulation
Zhang, Xinyu X; Zhang, Chen C; Li, Qiangqiang Q; Piao, Chunmei C; Zhang, Hongsheng H; Gu, Hong H
Publication Date: 2021

Variant appearance in text: BMPR2: 637C>T; R213X
PubMed Link: 34966542
Variant Present in the following documents:
  • sj-pdf-7-pul-10.1177_20458940211044577.pdf
View BVdb publication page



Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)
Michorowska, Sylwia S
Publication Date: 2021-08-09

Variant appearance in text: BMPR2: R213X
PubMed Link: 34451881
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00785.pdf
View BVdb publication page



Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension.

Pulmonary Circulation
Long, Lu L; Yang, Xudong X; Southwood, Mark M; Moore, Stephen S; Crosby, Alexi A; Upton, Paul D PD; Dunmore, Benjamin J BJ; Morrell, Nicholas W NW
Publication Date: 2020

Variant appearance in text: BMPR2: R213X
PubMed Link: 32733669
Variant Present in the following documents:
  • Main text
  • sj-pdf-1-pul-10.1177_2045894020935783.pdf
  • 10.1177_2045894020935783.pdf
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: BMPR2: R213X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Nature Communications
Gräf, Stefan S; Haimel, Matthias M; Bleda, Marta M; Hadinnapola, Charaka C; Southgate, Laura L; Li, Wei W; Hodgson, Joshua J; Liu, Bin B; Salmon, Richard M RM; Southwood, Mark M; Machado, Rajiv D RD; Martin, Jennifer M JM; Treacy, Carmen M CM; Yates, Katherine K; Daugherty, Louise C LC; Shamardina, Olga O; Whitehorn, Deborah D; Holden, Simon S; Aldred, Micheala M; Bogaard, Harm J HJ; Church, Colin C; Coghlan, Gerry G; Condliffe, Robin R; Corris, Paul A PA; Danesino, Cesare C; Eyries, Mélanie M; Gall, Henning H; Ghio, Stefano S; Ghofrani, Hossein-Ardeschir HA; Gibbs, J Simon R JSR; Girerd, Barbara B; Houweling, Arjan C AC; Howard, Luke L; Humbert, Marc M; Kiely, David G DG; Kovacs, Gabor G; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Newnham, Michael M; Olschewski, Andrea A; Olschewski, Horst H; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Stein, Dan F DF; Suntharalingam, Jay J; Swietlik, Emilia M EM; Toshner, Mark R MR; van Heel, David A DA; Vonk Noordegraaf, Anton A; Waisfisz, Quinten Q; Wharton, John J; Wort, Stephen J SJ; Ouwehand, Willem H WH; Soranzo, Nicole N; Lawrie, Allan A; Upton, Paul D PD; Wilkins, Martin R MR; Trembath, Richard C RC; Morrell, Nicholas W NW
Publication Date: 2018-04-12

Variant appearance in text: BMPR2: 637C>T; Arg213Ter
PubMed Link: 29650961
Variant Present in the following documents:
  • 41467_2018_3672_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: BMPR2: 637C>T; R213*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Publication Date: 2015-12

Variant appearance in text: BMPR2: 637C>T
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: BMPR2: R213*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient.

European Respiratory Review : An Official Journal Of The European Respiratory Society
Raamsteeboers, Aniek J AJ; Bogaard, Harm Jan HJ; Vonk Noordegraaf, Anton A
Publication Date: 2014-03-01

Variant appearance in text: BMPR2: 637C>T; Arg213X
PubMed Link: 24591673
Variant Present in the following documents:
  • Main text
  • err-23-131-147.pdf
View BVdb publication page



Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension.

American Journal Of Respiratory Cell And Molecular Biology
Drake, Kylie M KM; Dunmore, Benjamin J BJ; McNelly, Lauren N LN; Morrell, Nicholas W NW; Aldred, Micheala A MA
Publication Date: 2013-09

Variant appearance in text: BMPR2: R213X
PubMed Link: 23590310
Variant Present in the following documents:
  • Main text
View BVdb publication page