JAK2 c.1851C>G ;(p.V617=)

Variant ID: 9-5073772-C-G

NM_004972.3(JAK2):c.1851C>G;(p.V617=)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


EAHP 2020 workshop proceedings, pediatric myeloid neoplasms.

Virchows Archiv : An International Journal Of Pathology
Leguit, R J RJ; Orazi, A A; Kucine, N N; Kvasnicka, H M HM; Gianelli, U U; Arber, D A DA; Porwit, A A; Ponzoni, M M
Publication Date: 2022-10

Variant appearance in text: JAK2: V617V
PubMed Link: 35819517
Variant Present in the following documents:
  • Main text
  • 428_2022_Article_3375.pdf
View BVdb publication page



Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Scientific Reports
Lee, Woo Seung WS; Lee, Junwon J; Choi, Jun Jeong JJ; Kang, Hyun Goo HG; Lee, Sung Chul SC; Kim, Ju Han JH
Publication Date: 2021-09-20

Variant appearance in text: JAK2: V617V
PubMed Link: 34545149
Variant Present in the following documents:
  • 41598_2021_98084_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: JAK2: V617V
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Chromium and cobalt intoxication mimicking mitochondriopathy.

Neurological Research And Practice
Rattay, Tim W TW; Kluba, Torsten T; Schöls, Ludger L
Publication Date: 2021-07-08

Variant appearance in text: JAK2: V617V
PubMed Link: 34238384
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome editing to model and reverse a prevalent mutation associated with myeloproliferative neoplasms.

Plos One
Baik, Ron R; Wyman, Stacia K SK; Kabir, Shaheen S; Corn, Jacob E JE
Publication Date: 2021

Variant appearance in text: JAK2: V617V
PubMed Link: 33661998
Variant Present in the following documents:
  • Main text
  • pone.0247858.pdf
  • pone.0247858.s005.pdf
View BVdb publication page



Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One
Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R
Publication Date: 2021

Variant appearance in text: JAK2: V617V
PubMed Link: 33556149
Variant Present in the following documents:
  • pone.0246048.s008.xlsx, sheet 1
View BVdb publication page



Serum Has Higher Proportion of Janus Kinase 2 V617F Mutation Compared to Paired EDTA-Whole Blood Sample: A Model for Somatic Mutation Quantification Using qPCR and the 2-∆∆Cq Method.

Diagnostics (Basel, Switzerland)
Barra, Gustavo Barcelos GB; Santa Rita, Ticiane Henriques TH; Almeida, Ana Luisa Santa Cruz ALSC; Jácomo, Rafael Henriques RH; Nery, Lídia Freire Abdalla LFA
Publication Date: 2020-03-12

Variant appearance in text: JAK2: V617V
PubMed Link: 32178286
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera.

Cancers
Kjeldsen, Eigil E
Publication Date: 2018-06-25

Variant appearance in text: JAK2: V617V
PubMed Link: 29941837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Makoto, Ikejiri I; Usui, Masanobu M; Wada, Hideo H; Matsumoto, Takeshi T; Ohishi, Kohshi K; Shindo, Akihiro A; Yamashita, Yoshiki Y; Nakatani, Kaname K; Tamaki, Shigehisa S; Tomimoto, Hidekazu H; Isaji, Shuji S
Publication Date: 2018-10

Variant appearance in text: JAK2: V617V
PubMed Link: 29747524
Variant Present in the following documents:
  • Main text
  • 10.1177_1076029618774146.pdf
View BVdb publication page



Endogenous retrovirus induces leukemia in a xenograft mouse model for primary myelofibrosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Triviai, Ioanna I; Ziegler, Marion M; Bergholz, Ulla U; Oler, Andrew J AJ; Stübig, Thomas T; Prassolov, Vladimir V; Fehse, Boris B; Kozak, Christine A CA; Kröger, Nicolaus N; Stocking, Carol C
Publication Date: 2014-06-10

Variant appearance in text: JAK2: V617V
PubMed Link: 24912157
Variant Present in the following documents:
  • Main text
View BVdb publication page



Primary myelofibrosis: risk stratification by IPSS identifies patients with poor clinical outcome.

Clinics (Sao Paulo, Brazil)
Benites, Bruno Deltreggia BD; Lima, Carolina Silva Costa CS; Lorand-Metze, Irene I; Delamain, Marcia Torresan MT; Oliveira, Gislaine Borba GB; Almeida, Daiane de Dd; Souza, Carmino Antonio de CA; Vassallo, Jose J; Pagnano, Katia Borgia Barbosa KB
Publication Date: 2013

Variant appearance in text: JAK2: V617V
PubMed Link: 23644853
Variant Present in the following documents:
  • Main text
  • cln-68-03-339.pdf
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: JAK2: V617V
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 1
View BVdb publication page



Advances and controversies in the diagnosis, pathogenesis, and treatment of systemic mastocytosis.

Cancer
Quintás-Cardama, Alfonso A; Jain, Nitin N; Verstovsek, Srdan S
Publication Date: 2011-12-15

Variant appearance in text: JAK2: V617V
PubMed Link: 21692073
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hydroxyurea dose impacts hematologic parameters in polycythemia vera and essential thrombocythemia but does not appreciably affect JAK2-V617F allele burden.

Haematologica
Zalcberg, Ilana Renault IR; Ayres-Silva, Jackline J; de Azevedo, Alexandre Mello AM; Solza, Cristiana C; Daumas, Adelmo A; Bonamino, Martin M
Publication Date: 2011-03

Variant appearance in text: JAK2: V617V
PubMed Link: 21357711
Variant Present in the following documents:
  • Main text
View BVdb publication page