JAK2 c.3002T>A ;(p.L1001*)

Variant ID: 9-5090854-T-A

NM_004972.3(JAK2):c.3002T>A;(p.L1001*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer.

Cold Spring Harbor Molecular Case Studies
Bell, Hannah N HN; Kumar-Sinha, Chandan C; Mannan, Rahul R; Zakalik, Dana D; Zhang, Yuping Y; Mehra, Rohit R; Jagtap, Deepa D; Dhanasekaran, Saravana M SM; Vaishampayan, Ulka U
Publication Date: 2022-04

Variant appearance in text: JAK2: L1001*
PubMed Link: 35483881
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic Evolution of Treatment-Resistant Cutaneous, Acral, and Uveal Melanomas.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Makohon-Moore, Alvin P AP; Lipson, Evan J EJ; Hooper, Jody E JE; Zucker, Amanda A; Hong, Jungeui J; Bielski, Craig M CM; Hayashi, Akimasa A; Tokheim, Collin C; Baez, Priscilla P; Kappagantula, Rajya R; Kohutek, Zachary Z; Makarov, Vladimir V; Riaz, Nadeem N; Postow, Michael A MA; Chapman, Paul B PB; Karchin, Rachel R; Socci, Nicholas D ND; Solit, David B DB; Chan, Timothy A TA; Taylor, Barry S BS; Topalian, Suzanne L SL; Iacobuzio-Donahue, Christine A CA
Publication Date: 2021-03-01

Variant appearance in text: JAK2: L1001*
PubMed Link: 33323400
Variant Present in the following documents:
  • Main text
View BVdb publication page