CALR c.325_326delinsGC ;(p.Y109A)

Variant ID: 19-13050373-TA-GC

NM_004343.3(CALR):c.325_326delinsGC;(p.Y109A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: Y109A
PubMed Link: 33821991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Delineation of the lectin site of the molecular chaperone calreticulin.

Cell Stress & Chaperones
Thomson, Sten P SP; Williams, David B DB
Publication Date: 2005

Variant appearance in text: CRT: Y109A
PubMed Link: 16184769
Variant Present in the following documents:
  • Main text
View BVdb publication page