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JAK2 c.1586C>A ;(p.P529H)
Variant ID: 9-5069997-C-A
NM_004972.3(
JAK2
):c.1586C>A;(p.P529H)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
JAK2 exon 12 mutations in cases with JAK2V617F-negative polycythemia vera and primary myelofibrosis.
Annals Of Hematology
Maddali, Madhavi M; Kulkarni, Uday Prakash UP; Ravindra, Niveditha N; Jajodia, Ekta E; Arunachalam, Arun Kumar AK; Suresh, Hemamalini H; Venkatraman, Arvind A; George, Biju B; Mathews, Vikram V; Balasubramanian, Poonkuzhali P
Publication Date: 2020-05
Variant appearance in text: JAK2: 1586C>A; P529H
PubMed Link:
32277273
Variant Present in the following documents:
Main text
View BVdb publication page
AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.
Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04
Variant appearance in text: JAK2: 1586C>A
PubMed Link:
32019565
Variant Present in the following documents:
12920_2020_668_MOESM6_ESM.xls, sheet 1
View BVdb publication page