CALR c.758G>A ;(p.W253*)

Variant ID: 19-13051410-G-A

NM_004343.3(CALR):c.758G>A;(p.W253*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 758G>A
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The DNA damage checkpoint pathway promotes extensive resection and nucleotide synthesis to facilitate homologous recombination repair and genome stability in fission yeast.

Nucleic Acids Research
Blaikley, Elizabeth J EJ; Tinline-Purvis, Helen H; Kasparek, Torben R TR; Marguerat, Samuel S; Sarkar, Sovan S; Hulme, Lydia L; Hussey, Sharon S; Wee, Boon-Yu BY; Deegan, Rachel S RS; Walker, Carol A CA; Pai, Chen-Chun CC; Bähler, Jürg J; Nakagawa, Takuro T; Humphrey, Timothy C TC
Publication Date: 2014-05

Variant appearance in text: SSA: W253X
PubMed Link: 24623809
Variant Present in the following documents:
  • Main text
  • gku190.pdf
View BVdb publication page