Bibliome.ai browser hg19
Search
About
Stats
FAQ
CALR c.1091_1142del ;(p.E364Gfs*49)
Variant ID: 19-13054564-GAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGA-G
NM_004343.3(
CALR
):c.1091_1142del;(p.E364Gfs*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:
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: 1091_1142del; E364Gfs*49
PubMed Link:
33785036
Variant Present in the following documents:
13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page
Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations.
Haematologica
Andrikovics, Hajnalka H; Krahling, Tunde T; Balassa, Katalin K; Halm, Gabriella G; Bors, Andras A; Koszarska, Magdalena M; Batai, Arpad A; Dolgos, Janos J; Csomor, Judit J; Egyed, Miklos M; Sipos, Andrea A; Remenyi, Peter P; Tordai, Attila A; Masszi, Tamas T
Publication Date: 2014-07
Variant appearance in text: CALR: 1091_1142del
PubMed Link:
24895336
Variant Present in the following documents:
Main text
View BVdb publication page