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CALR c.1125del ;(p.K375Nfs*55)
Variant ID: 19-13054595-GA-G
NM_004343.3(
CALR
):c.1125del;(p.K375Nfs*55)
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:
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08
Variant appearance in text: CALR: K375Nfs*55
PubMed Link:
35835912
Variant Present in the following documents:
41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
Myeloproliferative neoplasm-driving Calr frameshift promotes the development of pulmonary hypertension in mice.
Journal Of Hematology & Oncology
Minakawa, Keiji K; Yokokawa, Tetsuro T; Ueda, Koki K; Nakajima, Osamu O; Misaka, Tomofumi T; Kimishima, Yusuke Y; Wada, Kento K; Tomita, Yusuke Y; Miura, Saori S; Sato, Yuka Y; Mimura, Kosaku K; Sugimoto, Koichi K; Nakazato, Kazuhiko K; Nollet, Kenneth E KE; Ogawa, Kazuei K; Ikezoe, Takayuki T; Hashimoto, Yuko Y; Takeishi, Yasuchika Y; Ikeda, Kazuhiko K
Publication Date: 2021-03-30
Variant appearance in text: CALR: 1125del; K375Nfs*55
PubMed Link:
33785036
Variant Present in the following documents:
13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page
Organoids from colorectal peritoneal metastases as a platform for improving hyperthermic intraperitoneal chemotherapy.
The British Journal Of Surgery
Ubink, I I; Bolhaqueiro, A C F ACF; Elias, S G SG; Raats, D A E DAE; Constantinides, A A; Peters, N A NA; Wassenaar, E C E ECE; de Hingh, I H J T IHJT; Rovers, K P KP; van Grevenstein, W M U WMU; Laclé, M M MM; Kops, G J P L GJPL; Borel Rinkes, I H M IHM; Kranenburg, O O
Publication Date: 2019-09
Variant appearance in text: CALR: K375Nfs
PubMed Link:
31197820
Variant Present in the following documents:
BJS-106-1404.pdf
View BVdb publication page