CALR c.1245C>G ;(p.D415E)

Variant ID: 19-13054718-C-G

NM_004343.3(CALR):c.1245C>G;(p.D415E)

This variant was identified in 6 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: N/A
PubMed Link: 36755093
Variant Present in the following documents:
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CALR: D415E
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: CALR: 1245C>G; D415E; rs148604761
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Microscaled proteogenomic methods for precision oncology.

Nature Communications
Satpathy, Shankha S; Jaehnig, Eric J EJ; Krug, Karsten K; Kim, Beom-Jun BJ; Saltzman, Alexander B AB; Chan, Doug W DW; Holloway, Kimberly R KR; Anurag, Meenakshi M; Huang, Chen C; Singh, Purba P; Gao, Ari A; Namai, Noel N; Dou, Yongchao Y; Wen, Bo B; Vasaikar, Suhas V SV; Mutch, David D; Watson, Mark A MA; Ma, Cynthia C; Ademuyiwa, Foluso O FO; Rimawi, Mothaffar F MF; Schiff, Rachel R; Hoog, Jeremy J; Jacobs, Samuel S; Malovannaya, Anna A; Hyslop, Terry T; Clauser, Karl R KR; Mani, D R DR; Perou, Charles M CM; Miles, George G; Zhang, Bing B; Gillette, Michael A MA; Carr, Steven A SA; Ellis, Matthew J MJ
Publication Date: 2020-01-27

Variant appearance in text: N/A
PubMed Link: 31988290
Variant Present in the following documents:
View BVdb publication page



Calreticulin: Challenges Posed by the Intrinsically Disordered Nature of Calreticulin to the Study of Its Function.

Frontiers In Cell And Developmental Biology
Varricchio, Lilian L; Falchi, Mario M; Dall'Ora, Massimiliano M; De Benedittis, Caterina C; Ruggeri, Alessandra A; Uversky, Vladimir N VN; Migliaccio, Anna Rita AR
Publication Date: 2017

Variant appearance in text: CALR: D415E
PubMed Link: 29218307
Variant Present in the following documents:
  • Main text
  • fcell-05-00096.pdf
View BVdb publication page



High resolution melting analysis: a rapid and accurate method to detect CALR mutations.

Plos One
Bilbao-Sieyro, Cristina C; Santana, Guillermo G; Moreno, Melania M; Torres, Laura L; Santana-Lopez, Gonzalo G; Rodriguez-Medina, Carlos C; Perera, María M; Bellosillo, Beatriz B; de la Iglesia, Silvia S; Molero, Teresa T; Gomez-Casares, Maria Teresa MT
Publication Date: 2014

Variant appearance in text: rs148604761
PubMed Link: 25068507
Variant Present in the following documents:
  • pone.0103511.pdf
View BVdb publication page