CALR c.1094_1139del ;(p.Q365Rfs*50)

Variant ID: 19-13054567-CAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGA-C

NM_004343.3(CALR):c.1094_1139del;(p.Q365Rfs*50)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Human bone marrow organoids for disease modelling, discovery and validation of therapeutic targets in hematological malignancies.

Cancer Discovery
Khan, Abdullah O AO; Rodriguez-Romera, Antonio A; Reyat, Jasmeet S JS; Olijnik, Aude-Anais AA; Colombo, Michela M; Wang, Guanlin G; Wen, Wei Xiong WX; Sousos, Nikolaos N; Murphy, Lauren C LC; Grygielska, Beata B; Perrella, Gina G; Mahony, Christopher B CB; Ling, Rebecca E RE; Elliott, Natalina E NE; Simoglou Karali, Christina C; Stone, Andrew P AP; Kemble, Samuel S; Cutler, Emily A EA; Fielding, Adele K AK; Croft, Adam P AP; Bassett, David D; Poologasundarampillai, Gowsihan G; Roy, Anindita A; Gooding, Sarah S; Rayes, Julie J; Machlus, Kellie R KR; Psaila, Bethan B
Publication Date: 2022-11-09

Variant appearance in text: CALR: 1094_1139del
PubMed Link: 36351055
Variant Present in the following documents:
  • cd-22-0199_supp_table_3_suppst3.xlsx, sheet 1
View BVdb publication page



Myeloproliferative neoplasm-driving Calr frameshift promotes the development of pulmonary hypertension in mice.

Journal Of Hematology & Oncology
Minakawa, Keiji K; Yokokawa, Tetsuro T; Ueda, Koki K; Nakajima, Osamu O; Misaka, Tomofumi T; Kimishima, Yusuke Y; Wada, Kento K; Tomita, Yusuke Y; Miura, Saori S; Sato, Yuka Y; Mimura, Kosaku K; Sugimoto, Koichi K; Nakazato, Kazuhiko K; Nollet, Kenneth E KE; Ogawa, Kazuei K; Ikezoe, Takayuki T; Hashimoto, Yuko Y; Takeishi, Yasuchika Y; Ikeda, Kazuhiko K
Publication Date: 2021-03-30

Variant appearance in text: CALR: 1094_1139del; Q365Rfs*50
PubMed Link: 33785036
Variant Present in the following documents:
  • 13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page



Coexisting JAK2V617F and CALR Exon 9 Mutation in Essential Thrombocythemia.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion
Rashid, Munazza M; Ahmed, Rifat Zubair RZ; Ahmed, Shariq S; Nadeem, Muhammad M; Ahmed, Nuzhat N; Shamsi, Tahir Sultan TS
Publication Date: 2016-06

Variant appearance in text: CALR: 1094_1139del
PubMed Link: 27408370
Variant Present in the following documents:
  • Main text
View BVdb publication page



[CALR gene mutation detection and clinical observation of 150 essential thrombocythemia patients].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Zhang, Xiuwen X; Zhou, Min M; Chao, Hongying H; Lu, Xuzhang X; Cen, Ling L
Publication Date: 2015-05

Variant appearance in text: CALR: 1094_1139del
PubMed Link: 26031522
Variant Present in the following documents:
  • Main text
  • cjh-36-05-378.pdf
View BVdb publication page