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AKAP13 c.757T>C ;(p.Y253H)
Variant ID: 15-86118456-T-C
NM_007200.4(
AKAP13
):c.757T>C;(p.Y253H)
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:
Novel mutations in the kinase domain of BCR-ABL gene causing imatinib resistance in chronic myeloid leukemia patients.
Scientific Reports
Chandrasekhar, Chodimella C; Kumar, Pasupuleti Santhosh PS; Sarma, Potukuchi Venkata Gurunadha Krishna PVGK
Publication Date: 2019-02-20
Variant appearance in text: LBC: Tyr253His
PubMed Link:
30787317
Variant Present in the following documents:
Main text
View BVdb publication page
Next-generation sequencing for sensitive detection of BCR-ABL1 mutations relevant to tyrosine kinase inhibitor choice in imatinib-resistant patients.
Oncotarget
Soverini, Simona S; De Benedittis, Caterina C; Polakova, Katerina Machova KM; Linhartova, Jana J; Castagnetti, Fausto F; Gugliotta, Gabriele G; Papayannidis, Cristina C; Mancini, Manuela M; Klamova, Hana H; Salvucci, Marzia M; Crugnola, Monica M; Iurlo, Alessandra A; Albano, Francesco F; Russo, Domenico D; Rosti, Gianantonio G; Cavo, Michele M; Baccarani, Michele M; Martinelli, Giovanni G
Publication Date: 2016-04-19
Variant appearance in text: LBC: Y253H
PubMed Link:
26980736
Variant Present in the following documents:
oncotarget-07-21982-s001.pdf
View BVdb publication page