CALR c.508_509delinsGC ;(p.H170A)

Variant ID: 19-13051072-CA-GC

NM_004343.3(CALR):c.508_509delinsGC;(p.H170A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mechanism of mutant calreticulin-mediated activation of the thrombopoietin receptor in cancers.

The Journal Of Cell Biology
Venkatesan, Arunkumar A; Geng, Jie J; Kandarpa, Malathi M; Wijeyesakere, Sanjeeva Joseph SJ; Bhide, Ashwini A; Talpaz, Moshe M; Pogozheva, Irina D ID; Raghavan, Malini M
Publication Date: 2021-07-05

Variant appearance in text: CRT: H170A
PubMed Link: 33909030
Variant Present in the following documents:
  • Main text
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: H170A
PubMed Link: 33821991
Variant Present in the following documents:
  • Main text
View BVdb publication page



X-ray structure of the human calreticulin globular domain reveals a peptide-binding area and suggests a multi-molecular mechanism.

Plos One
Chouquet, Anne A; Païdassi, Helena H; Ling, Wai Li WL; Frachet, Philippe P; Houen, Gunnar G; Arlaud, Gérard J GJ; Gaboriaud, Christine C
Publication Date: 2011-03-15

Variant appearance in text: CRT: His170Ala
PubMed Link: 21423620
Variant Present in the following documents:
  • Main text
  • pone.0017886.pdf
View BVdb publication page