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CALR c.403_404delinsCT ;(p.D135L)
Variant ID: 19-13050872-GA-CT
NM_004343.3(
CALR
):c.403_404delinsCT;(p.D135L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Oncogenic CALR mutant C-terminus mediates dual binding to the thrombopoietin receptor triggering complex dimerization and activation.
Nature Communications
Papadopoulos, Nicolas N; Nédélec, Audrey A; Derenne, Allison A; Şulea, Teodor Asvadur TA; Pecquet, Christian C; Chachoua, Ilyas I; Vertenoeil, Gaëlle G; Tilmant, Thomas T; Petrescu, Andrei-Jose AJ; Mazzucchelli, Gabriel G; Iorga, Bogdan I BI; Vertommen, Didier D; Constantinescu, Stefan N SN
Publication Date: 2023-04-05
Variant appearance in text: CALR: D135L
PubMed Link:
37019903
Variant Present in the following documents:
41467_2023_37277_MOESM1_ESM.pdf
41467_2023_Article_37277.pdf
View BVdb publication page
Defining the requirements for the pathogenic interaction between mutant calreticulin and MPL in MPN.
Blood
Elf, Shannon S; Abdelfattah, Nouran S NS; Baral, April J AJ; Beeson, Danielle D; Rivera, Jeanne F JF; Ko, Amy A; Florescu, Natalie N; Birrane, Gabriel G; Chen, Edwin E; Mullally, Ann A
Publication Date: 2018-02-15
Variant appearance in text: CALR: D135L
PubMed Link:
29288169
Variant Present in the following documents:
Main text
View BVdb publication page
Novel molecular mechanism of cellular transformation by a mutant molecular chaperone in myeloproliferative neoplasms.
Cancer Science
Araki, Marito M; Komatsu, Norio N
Publication Date: 2017-10
Variant appearance in text: CALR: D135L
PubMed Link:
28741795
Variant Present in the following documents:
Main text
CAS-108-1907.pdf
View BVdb publication page