KIT c.1652C>T ;(p.P551L)

Variant ID: 4-55593586-C-T

NM_000222.2(KIT):c.1652C>T;(p.P551L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
BirkeƤlv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: KIT: P551L
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
  • PATH-259-56-s006.xlsx, sheet 2
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: KIT: P551L
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s002.pdf
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: KIT: 1652C>T; P551L
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience
Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J
Publication Date: 2020

Variant appearance in text: KIT: P551L
PubMed Link: 32082541
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_377.pdf
View BVdb publication page



Mutational Profile of Driver Genes in Brazilian Melanomas.

Journal Of Global Oncology
Vicente, Anna Luiza S A ALSA; Crovador, Camila S CS; Macedo, Graziela G; Scapulatempo-Neto, Cristovam C; Reis, Rui M RM; Vazquez, Vinicius L VL
Publication Date: 2019-11

Variant appearance in text: KIT: P551L
PubMed Link: 31756131
Variant Present in the following documents:
  • JGO.19.00169.pdf
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: KIT: P551L
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: KIT: P551L
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Vila, Lizette L; Liu, Hongyan H; Al-Quran, Samer Z SZ; Coco, Dominique P DP; Dong, Hui-Jia HJ; Liu, Chen C
Publication Date: 2009-10

Variant appearance in text: KIT: Pro551Leu
PubMed Link: 19617878
Variant Present in the following documents:
  • Main text
View BVdb publication page