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JAK2 c.1115A>G ;(p.Y372C)
Variant ID: 9-5064941-A-G
NM_004972.3(
JAK2
):c.1115A>G;(p.Y372C)
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:
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.
Endocrine Connections
Cardot Bauters, Catherine C; Leteurtre, Emmanuelle E; Carnaille, Bruno B; Do Cao, Christine C; Espiard, Stéphanie S; Penven, Malo M; Destailleur, Evelyne E; Szuster, Isabelle I; Lovecchio, Tonio T; Leclerc, Julie J; Frénois, Fredéric F; Esquivel, Emmanuel E; Dahia, Patricia L M PLM; Ait-Yahya, Emilie E; Crépin, Michel M; Pigny, Pascal P
Publication Date: 2020-10
Variant appearance in text: JAK2: 1115A>G; Y372C
PubMed Link:
33112832
Variant Present in the following documents:
Main text
EC-20-0460.pdf
View BVdb publication page
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications.
Cancer Metastasis Reviews
Helsten, Teresa T; Schwaederle, Maria M; Kurzrock, Razelle R
Publication Date: 2015-09
Variant appearance in text: JAK2: Y372C
PubMed Link:
26224133
Variant Present in the following documents:
Main text
10555_2015_Article_9579.pdf
View BVdb publication page
Frequent CALR exon 9 alterations in JAK2 V617F-mutated essential thrombocythemia detected by high-resolution melting analysis.
Blood Cancer Journal
Lim, K-H KH; Chang, Y-C YC; Gon-Shen Chen, C C; Lin, H-C HC; Wang, W-T WT; Chiang, Y-H YH; Cheng, H-I HI; Su, N-W NW; Lin, J J; Chang, Y-F YF; Chang, M-C MC; Hsieh, R-K RK; Kuo, Y-Y YY; Chou, W-C WC
Publication Date: 2015-03-20
Variant appearance in text: JAK2: 1115A>G
PubMed Link:
25794131
Variant Present in the following documents:
Main text
View BVdb publication page