CALR c.1154delinsCTTGTC ;(p.K385Tfs*47)

Variant ID: 19-13054627-A-CTTGTC

NM_004343.3(CALR):c.1154delinsCTTGTC;(p.K385Tfs*47)

This variant was identified in 3 publications

View GRCh38 version.




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: 1154delinsCTTGTC; K385Tfs*47
PubMed Link: 33785036
Variant Present in the following documents:
  • 13045_2021_1064_MOESM7_ESM.pdf
View BVdb publication page



INDELseek: detection of complex insertions and deletions from next-generation sequencing data.

Bmc Genomics
Au, Chun Hang CH; Leung, Anskar Y H AY; Kwong, Ava A; Chan, Tsun Leung TL; Ma, Edmond S K ES
Publication Date: 2017-01-05

Variant appearance in text: CALR: 1154delAinsCTTGTC; Lys385Thrfs*47
PubMed Link: 28056804
Variant Present in the following documents:
  • Main text
  • 12864_2016_Article_3449.pdf
View BVdb publication page



A new monoclonal antibody (CAL2) detects CALRETICULIN mutations in formalin-fixed and paraffin-embedded bone marrow biopsies.

Leukemia
Stein, H H; Bob, R R; Dürkop, H H; Erck, C C; Kämpfe, D D; Kvasnicka, H-M HM; Martens, H H; Roth, A A; Streubel, A A
Publication Date: 2016-01

Variant appearance in text: N/A
PubMed Link: 26202929
Variant Present in the following documents:
View BVdb publication page