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JAK2 c.1847G>A ;(p.C616Y)
Variant ID: 9-5073768-G-A
NM_004972.3(
JAK2
):c.1847G>A;(p.C616Y)
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Development of a high resolution melting analysis assay for rapid identification of JAK2 V617F missense mutation and its validation.
Experimental Hematology & Oncology
Moradabadi, Alireza A; Farsinejad, Alireza A; Khansarinejad, Behzad B; Fatemi, Ahamd A
Publication Date: 2019
Variant appearance in text: JAK2: C616Y
PubMed Link:
31165012
Variant Present in the following documents:
Main text
40164_2019_Article_134.pdf
View BVdb publication page
Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.
Journal Of Cancer
Akram, Afia Muhammad AM; Kausar, Humera H; Chaudhary, Asma A; Khalid, Ahmad Mukhtar AM; Shahzad, Muhammad Mudassar MM; Akhtar, Muhammad Waheed MW; Sabar, Muhammad Farooq MF; Sajid, Nadia N; Anazi, Nawaf Al NA; Aleem, Aamer A; Iqbal, Zafar Z
Publication Date: 2018
Variant appearance in text: JAK2: C616Y
PubMed Link:
30519338
Variant Present in the following documents:
Main text
jcav09p4341.pdf
View BVdb publication page
p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.
Haematologica
Eder-Azanza, Laura L; Hurtado, Cristina C; Navarro-Herrera, David D; Aranaz, Paula P; Novo, Francisco J FJ; Vizmanos, José L JL
Publication Date: 2017-08
Variant appearance in text: JAK2: C616Y
PubMed Link:
28473624
Variant Present in the following documents:
Main text
View BVdb publication page
Quantitative assay for the detection of the V617F variant in the Janus kinase 2 (JAK2) gene using the Luminex xMAP technology.
Bmc Medical Genetics
Paradis, François W FW; Simard, Raynald R; Gaudet, Daniel D
Publication Date: 2010-04-01
Variant appearance in text: JAK2: C616Y
PubMed Link:
20359349
Variant Present in the following documents:
Main text
View BVdb publication page
High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms.
The Journal Of Molecular Diagnostics : Jmd
Rapado, Inmaculada I; Grande, Silvia S; Albizua, Enriqueta E; Ayala, Rosa R; Hernández, José-Angel JA; Gallardo, Miguel M; Gilsanz, Florinda F; Martinez-Lopez, Joaquin J
Publication Date: 2009-03
Variant appearance in text: JAK2: C616Y
PubMed Link:
19225136
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.
Journal Of Cellular And Molecular Medicine
Tefferi, Ayalew A
Publication Date: 2009-02
Variant appearance in text: JAK2: C616Y
PubMed Link:
19175693
Variant Present in the following documents:
Main text
jcmm0013-0215.pdf
View BVdb publication page
Consistent up-regulation of Stat3 Independently of Jak2 mutations in a new murine model of essential thrombocythemia.
Cancer Research
Senyuk, Vitalyi V; Rinaldi, Ciro Roberto CR; Li, Donglan D; Cattaneo, Francesca F; Stojanovic, Aleksandra A; Pane, Fabrizio F; Du, Xiaoping X; Mahmud, Nadim N; Dickstein, Jerome J; Nucifora, Giuseppina G
Publication Date: 2009-01-01
Variant appearance in text: JAK2: C616Y
PubMed Link:
19118011
Variant Present in the following documents:
Main text
View BVdb publication page
Comparison of mutated ABL1 and JAK2 as oncogenes and drug targets in myeloproliferative disorders.
Leukemia
Walz, C C; Cross, N C P NC; Van Etten, R A RA; Reiter, A A
Publication Date: 2008-07
Variant appearance in text: JAK2: C616Y
PubMed Link:
18528425
Variant Present in the following documents:
Main text
View BVdb publication page