CALR c.1111_1141del ;(p.E371Rfs*49)

Variant ID: 19-13054582-AGGAAGAAGACAAGAAACGCAAAGAGGAGGAG-A

NM_004343.3(CALR):c.1111_1141del;(p.E371Rfs*49)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 1111_1141del; E371Rfs*49
PubMed Link: 33785036
Variant Present in the following documents:
  • 13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: CALR: 1111_1141delGAAGAAGACAAGAAACGCAAAGAGGAGGAGG; Glu371fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s6.xlsx, sheet 2
View BVdb publication page



Low neutrophil alkaline phosphatase score is a new aspect of calreticulin-mutated myeloproliferative neoplasms.

Springerplus
Kondo, Toshinori T; Tasaka, Taizo T; Tomioka, Nanako N; Sano, Fuminori F; Tokunaga, Hirotoshi H; Suemori, Shin-Ichiro S; Tsujioka, Takayuki T; Matsuhashi, Yoshiko Y; Nakanishi, Hidekazu H; Wada, Hideho H; Tohyama, Kaoru K; Sugihara, Takashi T
Publication Date: 2016

Variant appearance in text: CALR: 1110_1140del
PubMed Link: 27504244
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_2829.pdf
View BVdb publication page



Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations.

Haematologica
Andrikovics, Hajnalka H; Krahling, Tunde T; Balassa, Katalin K; Halm, Gabriella G; Bors, Andras A; Koszarska, Magdalena M; Batai, Arpad A; Dolgos, Janos J; Csomor, Judit J; Egyed, Miklos M; Sipos, Andrea A; Remenyi, Peter P; Tordai, Attila A; Masszi, Tamas T
Publication Date: 2014-07

Variant appearance in text: CALR: 1110_1140del
PubMed Link: 24895336
Variant Present in the following documents:
  • Main text
View BVdb publication page