KIT c.1253A>C ;(p.Y418S)

Variant ID: 4-55589771-A-C

NM_000222.2(KIT):c.1253A>C;(p.Y418S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Acute myeloid leukemia immunopeptidome reveals HLA presentation of mutated nucleophosmin.

Plos One
Narayan, Rupa R; Olsson, Niclas N; Wagar, Lisa E LE; Medeiros, Bruno C BC; Meyer, Everett E; Czerwinski, Debra D; Khodadoust, Michael S MS; Zhang, Lichao L; Schultz, Liora L; Davis, Mark M MM; Elias, Joshua E JE; Levy, Ron R
Publication Date: 2019

Variant appearance in text: KIT: Y418S
PubMed Link: 31291378
Variant Present in the following documents:
  • Main text
  • pone.0219547.pdf
View BVdb publication page



Multi-omics profiling reveals a distinctive epigenome signature for high-risk acute promyelocytic leukemia.

Oncotarget
Singh, Abhishek A AA; Petraglia, Francesca F; Nebbioso, Angela A; Yi, Guoqiang G; Conte, Mariarosaria M; Valente, Sergio S; Mandoli, Amit A; Scisciola, Lucia L; Lindeboom, Rik R; Kerstens, Hinri H; Janssen-Megens, Eva M EM; Pourfarzad, Farzin F; Habibi, Ehsan E; Berentsen, Kim K; Kim, Bowon B; Logie, Colin C; Heath, Simon S; Wierenga, Albertus T J ATJ; Clarke, Laura L; Flicek, Paul P; Jansen, Joop H JH; Kuijpers, Taco T; Yaspo, Marie Laure ML; Valle, Veronique Della VD; Bernard, Olivier O; Gut, Ivo I; Vellenga, Edo E; Stunnenberg, Hendrik G HG; Mai, Antonello A; Altucci, Lucia L; Martens, Joost H A JHA
Publication Date: 2018-05-22

Variant appearance in text: KIT: Y418S
PubMed Link: 29876014
Variant Present in the following documents:
  • oncotarget-09-25647-s002.xlsx, sheet 1
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: KIT: Y418S
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: KIT: Y418S
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page