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CALR c.1141del ;(p.E381Rfs*49)
Variant ID: 19-13054612-AG-A
NM_004343.3(
CALR
):c.1141del;(p.E381Rfs*49)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis mediated neoplastic fibrocyte generation in myeloproliferative neoplasms.
Haematologica
Shi, Zhongxun Z; Liu, Jinqin J; Zhao, Yingying Y; Yang, Lin L; Cai, Yanan Y; Zhang, Peihong P; Xu, Zefeng Z; Qin, Tiejun T; Qu, Shiqiang S; Pan, Lijuan L; Wu, Junying J; Yan, Xin X; Li, Zexing Z; Zhang, Wenjun W; Yan, Yiru Y; Huang, Huijun H; Huang, Gang G; Li, Bing B; Wu, Xudong X; Xiao, Zhijian Z
Publication Date: 2022-08-25
Variant appearance in text: CALR: E381Rfs*49
PubMed Link:
36005555
Variant Present in the following documents:
2021_280320_SHI_SUPPL.pdf
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: 1141del; E381Rfs*49
PubMed Link:
33785036
Variant Present in the following documents:
13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page