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JAK2 c.1633T>G ;(p.L545V)
Variant ID: 9-5070044-T-G
NM_004972.3(
JAK2
):c.1633T>G;(p.L545V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Predicting the functional impact of protein mutations: application to cancer genomics.
Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01
Variant appearance in text: JAK2: L545V
PubMed Link:
21727090
Variant Present in the following documents:
supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page
Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies.
Genes & Cancer
Jatiani, Shashidhar S SS; Baker, Stacey J SJ; Silverman, Lewis R LR; Reddy, E Premkumar EP
Publication Date: 2010-10
Variant appearance in text: JAK2: L545V
PubMed Link:
21442038
Variant Present in the following documents:
Main text
View BVdb publication page
Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias.
The Journal Of Molecular Diagnostics : Jmd
Ma, Wanlong W; Kantarjian, Hagop H; Zhang, Xi X; Yeh, Chen-Hsiung CH; Zhang, Zhong J ZJ; Verstovsek, Srdan S; Albitar, Maher M
Publication Date: 2009-01
Variant appearance in text: JAK2: L545V
PubMed Link:
19074595
Variant Present in the following documents:
Main text
View BVdb publication page