JAK2 c.3288T>A ;(p.D1096E)

Variant ID: 9-5126443-T-A

NM_004972.3(JAK2):c.3288T>A;(p.D1096E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: JAK2: 3288T>A; D1096E
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management.

Acta Neuropathologica Communications
Daoud, Elena V EV; Zhu, Kelsey K; Mickey, Bruce B; Mohamed, Hussein H; Wen, Mandisa M; Delorenzo, Michael M; Tran, Ivy I; Serrano, Jonathan J; Hatanpaa, Kimmo J KJ; Raisanen, Jack M JM; Snuderl, Matija M; Cai, Chunyu C
Publication Date: 2022-04-19

Variant appearance in text: JAK2: 3288T>A; D1096E; rs62637626
PubMed Link: 35440040
Variant Present in the following documents:
  • 40478_2022_1362_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: JAK2: 3288T>A; D1096E; rs62637626
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: JAK2: 3288T>A; Asp1096Glu; rs62637626
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 8
View BVdb publication page



No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population.

European Journal Of Human Genetics : Ejhg
Meyer, Christian G CG; Intemann, Christopher D CD; Förster, Birgit B; Owusu-Dabo, Ellis E; Franke, Andre A; Horstmann, Rolf D RD; Thye, Thorsten T
Publication Date: 2016-05

Variant appearance in text: JAK2: D1096E; rs62637626
PubMed Link: 26242990
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: JAK2: D1096E; rs62637626
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page