CALR c.1137G>C ;(p.E379D)

Variant ID: 19-13054610-G-C

NM_004343.3(CALR):c.1137G>C;(p.E379D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 1137G>C; Glu379Asp
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s6.xlsx, sheet 4
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: E379D
PubMed Link: 29218307
Variant Present in the following documents:
  • Main text
  • fcell-05-00096.pdf
View BVdb publication page



Frequent CALR exon 9 alterations in JAK2 V617F-mutated essential thrombocythemia detected by high-resolution melting analysis.

Blood Cancer Journal
Lim, K-H KH; Chang, Y-C YC; Gon-Shen Chen, C C; Lin, H-C HC; Wang, W-T WT; Chiang, Y-H YH; Cheng, H-I HI; Su, N-W NW; Lin, J J; Chang, Y-F YF; Chang, M-C MC; Hsieh, R-K RK; Kuo, Y-Y YY; Chou, W-C WC
Publication Date: 2015-03-20

Variant appearance in text: CALR: E379D
PubMed Link: 25794131
Variant Present in the following documents:
  • Main text
  • bcj201521a.pdf
View BVdb publication page