CALR c.1099_1157del ;(p.L367Gfs*2)

Variant ID: 19-13054572-GCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACAAGGA-G

NM_004343.3(CALR):c.1099_1157del;(p.L367Gfs*2)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: CALR: 1099_1159del
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Production and Characterization of Peptide Antibodies to the C-Terminal of Frameshifted Calreticulin Associated with Myeloproliferative Diseases.

International Journal Of Molecular Sciences
Mughal, Farah Perveen FP; Bergmann, Ann Christina AC; Huynh, Ha Uyen Buu HUB; Jørgensen, Sarah Hyllekvist SH; Mansha, Inaam I; Kesmez, Meliha M; Schürch, Patrick Mark PM; Theocharides, Alexandre Pierre André APA; Hansen, Paul Robert PR; Friis, Tina T; Holmström, Morten Orebo MO; Ciplys, Evaldas E; Slibinskas, Rimantas R; Højrup, Peter P; Houen, Gunnar G; Trier, Nicole Hartwig NH
Publication Date: 2022-06-18

Variant appearance in text: CRT: 1099_1159del
PubMed Link: 35743246
Variant Present in the following documents:
  • ijms-23-06803.pdf
View BVdb publication page



Isolation of T cell receptors targeting recurrent neoantigens in hematological malignancies.

Journal For Immunotherapy Of Cancer
Tubb, Vanessa M VM; Schrikkema, Deborah S DS; Croft, Nathan P NP; Purcell, Anthony W AW; Linnemann, Carsten C; Freriks, Manon R MR; Chen, Frederick F; Long, Heather M HM; Lee, Steven P SP; Bendle, Gavin M GM
Publication Date: 2018-07-13

Variant appearance in text: CALR: 1099_1159del
PubMed Link: 30001747
Variant Present in the following documents:
  • Main text
  • 40425_2018_Article_386.pdf
View BVdb publication page



MARIMO cells harbor a CALR mutation but are not dependent on JAK2/STAT5 signaling.

Leukemia
Kollmann, K K; Nangalia, J J; Warsch, W W; Quentmeier, H H; Bench, A A; Boyd, E E; Scott, M M; Drexler, H G HG; Green, A R AR
Publication Date: 2015-02

Variant appearance in text: CALR: 1099_1159del
PubMed Link: 25249012
Variant Present in the following documents:
  • Main text
  • leu2014285a.pdf
View BVdb publication page