CALR c.398G>C ;(p.G133A)

Variant ID: 19-13050867-G-C

NM_004343.3(CALR):c.398G>C;(p.G133A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: CALR: G133A
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Zinc-dependent multimerization of mutant calreticulin is required for MPL binding and MPN pathogenesis.

Blood Advances
Rivera, Jeanne F JF; Baral, April J AJ; Nadat, Fatima F; Boyd, Grace G; Smyth, Rachael R; Patel, Hershna H; Burman, Emma L EL; Alameer, Ghadah G; Boxall, Sally A SA; Jackson, Brian R BR; Baxter, E Joanna EJ; Laslo, Peter P; Green, Anthony R AR; Kent, David G DG; Mullally, Ann A; Chen, Edwin E
Publication Date: 2021-04-13

Variant appearance in text: CALR: G133A
PubMed Link: 33821991
Variant Present in the following documents:
  • Main text
View BVdb publication page