Bibliome.ai browser hg19
Search
About
Stats
FAQ
JAK2 c.2263A>C ;(p.S755R)
Variant ID: 9-5080360-A-C
NM_004972.3(
JAK2
):c.2263A>C;(p.S755R)
This variant was identified in 10 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Annals Of Hematology
Stockklausner, Clemens C; Duffert, C M CM; Cario, H H; Knöfler, R R; Streif, W W; Kulozik, A E AE; ,
Publication Date: 2021-07
Variant appearance in text: JAK2: S755R
PubMed Link:
33712866
Variant Present in the following documents:
Main text
View BVdb publication page
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Oncology Letters
Bi, Lei L; Ma, Tianyuan T; Li, Xu X; Wei, Lai L; Liu, Zinuo Z; Feng, Bingyue B; Dong, Baoxia B; Chen, Xiequn X
Publication Date: 2021-04
Variant appearance in text: JAK2: S755R
PubMed Link:
33692849
Variant Present in the following documents:
Main text
ol-21-04-12578.pdf
View BVdb publication page
Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.
Hematology. American Society Of Hematology. Education Program
McMullin, Mary Frances MF
Publication Date: 2019-12-06
Variant appearance in text: JAK2: Ser755Arg
PubMed Link:
31808840
Variant Present in the following documents:
Main text
View BVdb publication page
Germline JAK2 L611S mutation in a child with thrombocytosis.
Haematologica
Aral, Bernard B; Courtois, Martine M; Ragot, Sylviane S; Bourgeois, Valentin V; Bottolier-Lemallaz, Elodie E; Briandet, Claire C; Girodon, François F
Publication Date: 2018-08
Variant appearance in text: JAK2: S755R
PubMed Link:
29567786
Variant Present in the following documents:
Main text
View BVdb publication page
Identification of MPL R102P Mutation in Hereditary Thrombocytosis.
Frontiers In Endocrinology
Bellanné-Chantelot, Christine C; Mosca, Matthieu M; Marty, Caroline C; Favier, Rémi R; Vainchenker, William W; Plo, Isabelle I
Publication Date: 2017
Variant appearance in text: JAK2: S755R
PubMed Link:
28979237
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.
Frontiers In Endocrinology
Plo, Isabelle I; Bellanné-Chantelot, Christine C; Mosca, Matthieu M; Mazzi, Stefania S; Marty, Caroline C; Vainchenker, William W
Publication Date: 2017
Variant appearance in text: JAK2: S755R
PubMed Link:
28955303
Variant Present in the following documents:
Main text
fendo-08-00234.pdf
View BVdb publication page
Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.
Blood
Rumi, Elisa E; Cazzola, Mario M
Publication Date: 2017-02-09
Variant appearance in text: JAK2: S755R
PubMed Link:
28028026
Variant Present in the following documents:
Main text
View BVdb publication page
Genomic landscape of megakaryopoiesis and platelet function defects.
Blood
Bianchi, Elisa E; Norfo, Ruggiero R; Pennucci, Valentina V; Zini, Roberta R; Manfredini, Rossella R
Publication Date: 2016-03-10
Variant appearance in text: JAK2: S755R
PubMed Link:
26787733
Variant Present in the following documents:
Main text
View BVdb publication page
Emerging EPO and EPO receptor regulators and signal transducers.
Blood
Kuhrt, David D; Wojchowski, Don M DM
Publication Date: 2015-06-04
Variant appearance in text: JAK2: S755R
PubMed Link:
25887776
Variant Present in the following documents:
Main text
View BVdb publication page
Back to biology: new insights on inheritance in myeloproliferative disorders.
Current Hematologic Malignancy Reports
Braunstein, Evan M EM; Moliterno, Alison R AR
Publication Date: 2014-12
Variant appearance in text: JAK2: S755R
PubMed Link:
25195195
Variant Present in the following documents:
Main text
View BVdb publication page