KIT c.2468A>G ;(p.Y823C)

Variant ID: 4-55599342-A-G

NM_000222.2(KIT):c.2468A>G;(p.Y823C)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


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: Y823C
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: 2468A>G; Y823C
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Single-cell map of diverse immune phenotypes in the acute myeloid leukemia microenvironment.

Biomarker Research
Guo, Rongqun R; Lü, Mengdie M; Cao, Fujiao F; Wu, Guanghua G; Gao, Fengcai F; Pang, Haili H; Li, Yadan Y; Zhang, Yinyin Y; Xing, Haizhou H; Liang, Chunyan C; Lyu, Tianxin T; Du, Chunyan C; Li, Yingmei Y; Guo, Rong R; Xie, Xinsheng X; Li, Wei W; Liu, Delong D; Song, Yongping Y; Jiang, Zhongxing Z
Publication Date: 2021-03-01

Variant appearance in text: KIT: 2468A>G
PubMed Link: 33648605
Variant Present in the following documents:
  • 40364_2021_265_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: KIT: Y823C
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics
Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z
Publication Date: 2021-05-20

Variant appearance in text: KIT: Y823C
PubMed Link: 32510566
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications
Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2020-05-04

Variant appearance in text: KIT: Y823C
PubMed Link: 32366847
Variant Present in the following documents:
  • 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2
  • 41467_2020_15768_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: Y823C
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: Y823C
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: KIT: 2468A>G; Y823C
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine
Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK
Publication Date: 2016-12-14

Variant appearance in text: KIT: Y823C
PubMed Link: 27974047
Variant Present in the following documents:
  • 12967_2016_1075_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: KIT: Y823C
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



The energy landscape analysis of cancer mutations in protein kinases.

Plos One
Dixit, Anshuman A; Verkhivker, Gennady M GM
Publication Date: 2011

Variant appearance in text: KIT: Y823C
PubMed Link: 21998754
Variant Present in the following documents:
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: Y823C
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



KIT mutations are common in testicular seminomas.

The American Journal Of Pathology
Kemmer, Kathleen K; Corless, Christopher L CL; Fletcher, Jonathan A JA; McGreevey, Laura L; Haley, Andrea A; Griffith, Diana D; Cummings, Oscar W OW; Wait, Cecily C; Town, Ajia A; Heinrich, Michael C MC
Publication Date: 2004-01

Variant appearance in text: KIT: Y823C
PubMed Link: 14695343
Variant Present in the following documents:
  • Main text
View BVdb publication page