EPAS1 c.1121T>A ;(p.F374Y)

Variant ID: 2-46603764-T-A

NM_001430.4(EPAS1):c.1121T>A;(p.F374Y)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: EPAS1: F374Y
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

Haematologica
Karaghiannis, Valéna V; Maric, Darko D; Garrec, Céline C; Maaziz, Nada N; Buffet, Alexandre A; Schmitt, Loïc L; Antunes, Vincent V; Airaud, Fabrice F; Aral, Bernard B; Le Roy, Amandine A; Corbineau, Sébastien S; Mansour-Hendili, Lamisse L; Lesieur, Valentine V; Rimbert, Antoine A; Laporte, Fabien F; Delamare, Marine M; Rab, Minke M; Bézieau, Stéphane S; Cassinat, Bruno B; Galacteros, Frédéric F; Gimenez-Roqueplo, Anne-Paule AP; Burnichon, Nelly N; Cario, Holger H; Van Wijk, Richard R; Bento, Celeste C; Girodon, François F; Hoogewijs, David D; Gardie, Betty B
Publication Date: 2023-01-26

Variant appearance in text: EPAS1: F374Y
PubMed Link: 36700397
Variant Present in the following documents:
  • Main text
  • 2022_281698_KARAGHIANNIS_SUPPL.pdf
  • 1081652.pdf
View BVdb publication page



Hypoxia signaling pathway: A central mediator in endocrine tumors.

Frontiers In Endocrinology
Watts, Deepika D; Jaykar, Mangesh T MT; Bechmann, Nicole N; Wielockx, Ben B
Publication Date: 2022

Variant appearance in text: EPAS1: 1121T>A; F374Y
PubMed Link: 36699028
Variant Present in the following documents:
  • Main text
  • fendo-13-1103075.pdf
View BVdb publication page



Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.

Elife
Ohh, Michael M; Taber, Cassandra C CC; Ferens, Fraser G FG; Tarade, Daniel D
Publication Date: 2022-08-30

Variant appearance in text: EPAS1: F374Y; rs150797491
PubMed Link: 36040300
Variant Present in the following documents:
  • Main text
  • elife-80774.pdf
View BVdb publication page



Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances
Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q
Publication Date: 2022-09-27

Variant appearance in text: EPAS1: F374Y; rs150797491
PubMed Link: 35687490
Variant Present in the following documents:
  • advancesADV2021006654-suppl4.xlsx, sheet 24
  • advancesADV2021006654-suppl12.xlsx, sheet 1
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Targeting HIF-2α in the Tumor Microenvironment: Redefining the Role of HIF-2α for Solid Cancer Therapy.

Cancers
Davis, Leah L; Recktenwald, Matthias M; Hutt, Evan E; Fuller, Schuyler S; Briggs, Madison M; Goel, Arnav A; Daringer, Nichole N
Publication Date: 2022-02-28

Variant appearance in text: EPAS1: 1121T>A
PubMed Link: 35267567
Variant Present in the following documents:
  • Main text
  • cancers-14-01259.pdf
View BVdb publication page



Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human.

Genes
Kristan, Aleša A; Debeljak, Nataša N; Kunej, Tanja T
Publication Date: 2021-11-13

Variant appearance in text: EPAS1: Phe374Tyr
PubMed Link: 34828399
Variant Present in the following documents:
  • Main text
  • genes-12-01793.pdf
View BVdb publication page



Identification of novel mutations and functional impacts of EPAS1 in colorectal cancer.

Cancer Medicine
Islam, Farhadul F; Gopalan, Vinod V; Lu, Cu Tai CT; Pillai, Suja S; Lam, Alfred K AK
Publication Date: 2021-08

Variant appearance in text: EPAS1: 1121T>A
PubMed Link: 34250767
Variant Present in the following documents:
  • Main text
  • CAM4-10-5557.pdf
View BVdb publication page



The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.

Frontiers In Endocrinology
Peng, Song S; Zhang, Jun J; Tan, Xintao X; Huang, Yiqiang Y; Xu, Jing J; Silk, Natalie N; Zhang, Dianzheng D; Liu, Qiuli Q; Jiang, Jun J
Publication Date: 2020

Variant appearance in text: EPAS1: 1121T>A; F374Y
PubMed Link: 33329393
Variant Present in the following documents:
  • Main text
  • fendo-11-586857.pdf
View BVdb publication page



Functional significance of germline EPAS1 variants.

Endocrine-Related Cancer
Dwight, Trisha T; Kim, Edward E; Bastard, Karine K; Benn, Diana E DE; Eisenhofer, Graeme G; Richter, Susan S; Mannelli, Massimo M; Rapizzi, Elena E; Prejbisz, Aleksander A; Pęczkowska, Mariola M; Pacak, Karel K; Clifton-Bligh, Roderick R
Publication Date: 2021-02

Variant appearance in text: EPAS1: 1121T>A; Phe374Tyr
PubMed Link: 33300499
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Novel Mutations and Expressions of EPAS1 in Phaeochromocytomas and Paragangliomas.

Genes
Islam, Farhadul F; Pillai, Suja S; Gopalan, Vinod V; Lam, Alfred King-Yin AK
Publication Date: 2020-10-24

Variant appearance in text: EPAS1: Phe374Tyr
PubMed Link: 33114456
Variant Present in the following documents:
  • Main text
  • genes-11-01254.pdf
View BVdb publication page



Cross-Species Insights Into Genomic Adaptations to Hypoxia.

Frontiers In Genetics
Pamenter, Matthew E ME; Hall, James E JE; Tanabe, Yuuka Y; Simonson, Tatum S TS
Publication Date: 2020

Variant appearance in text: EPAS1: F374Y
PubMed Link: 32849780
Variant Present in the following documents:
  • Main text
  • fgene-11-00743.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: EPAS1: 1121T>A; Phe374Tyr; rs150797491
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia.

Aging
Yu, Jiong J; Shi, Xiaowei X; Yang, Chunzhang C; Bullova, Petra P; Hong, Christopher S CS; Nesvick, Cody L CL; Dmitriev, Pauline P; Pacak, Karel K; Zhuang, Zhengping Z; Cao, Hongcui H; Li, Lanjuan L
Publication Date: 2020-04-01

Variant appearance in text: HIF2A: F374Y
PubMed Link: 32235007
Variant Present in the following documents:
  • Main text
  • aging-12-102967.pdf
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: EPAS1: F374Y; rs150797491
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
  • DataSheet_1.xlsx, sheet 13
View BVdb publication page



High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Publication Date: 2018-12

Variant appearance in text: EPAS1: 1121T>A; F374Y
PubMed Link: 30487145
Variant Present in the following documents:
  • supp_mcs.a003178_Supplemental_File_3.xlsx, sheet 1
View BVdb publication page



HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.

Cancer Biology & Therapy
Liu, Qiuli Q; Tong, Dali D; Liu, Gaolei G; Yi, Yuting Y; Zhang, Dianzheng D; Zhang, Jun J; Zhang, Yao Y; Huang, Zaoming Z; Li, Yaoming Y; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Jiang, Jun J
Publication Date: 2017-12-02

Variant appearance in text: HIF2A: 1121T>A
PubMed Link: 29172931
Variant Present in the following documents:
  • Main text
  • kcbt-18-12-1394553.pdf
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: EPAS1: 1121T>A; Phe374Tyr
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page



The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Hypoxia (Auckland, N.Z.)
Gardie, Betty B; Percy, Melanie J MJ; Hoogewijs, David D; Chowdhury, Rasheduzzaman R; Bento, Celeste C; Arsenault, Patrick R PR; Richard, Stéphane S; Almeida, Helena H; Ewing, Joanne J; Lambert, Frédéric F; McMullin, Mary Frances MF; Schofield, Christopher J CJ; Lee, Frank S FS
Publication Date: 2014

Variant appearance in text: EPAS1: F374Y
PubMed Link: 27774468
Variant Present in the following documents:
  • Main text
  • hp-2-071.pdf
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: EPAS1: F374Y; rs150797491
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: EPAS1: F374Y; rs150797491
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.

Haematologica
Perrotta, Silverio S; Stiehl, Daniel P DP; Punzo, Francesca F; Scianguetta, Saverio S; Borriello, Adriana A; Bencivenga, Debora D; Casale, Maddalena M; Nobili, Bruno B; Fasoli, Silvia S; Balduzzi, Adriana A; Cro, Lilla L; Nytko, Katarzyna J KJ; Wenger, Roland H RH; Della Ragione, Fulvio F
Publication Date: 2013-10

Variant appearance in text: HIF2A: Phe374Tyr
PubMed Link: 23716564
Variant Present in the following documents:
  • Main text
View BVdb publication page



First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

The Journal Of Clinical Endocrinology And Metabolism
Taïeb, David D; Yang, Chunzhang C; Delenne, Blandine B; Zhuang, Zhengping Z; Barlier, Anne A; Sebag, Fréderic F; Pacak, Karel K
Publication Date: 2013-05

Variant appearance in text: HIF2A: 1121T>A
PubMed Link: 23539726
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.

Journal Of Molecular Medicine (Berlin, Germany)
Lorenzo, Felipe R FR; Yang, Chunzhang C; Ng Tang Fui, Mark M; Vankayalapati, Hariprasad H; Zhuang, Zhengping Z; Huynh, Thanh T; Grossmann, Mathis M; Pacak, Karel K; Prchal, Josef T JT
Publication Date: 2013-04

Variant appearance in text: HIF2A: 1121T>A
PubMed Link: 23090011
Variant Present in the following documents:
  • Main text
View BVdb publication page