KIT c.1939C>T ;(p.L647F)

Variant ID: 4-55594236-C-T

NM_000222.2(KIT):c.1939C>T;(p.L647F)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular Diagnosis & Therapy
Fitzgerald, Sandra S; Blenkiron, Cherie C; Stephens, Rosalie R; Mathy, Jon A JA; Somers-Edgar, Tiffany T; Rolfe, Gill G; Martin, Richard R; Jackson, Christopher C; Eccles, Michael M; Robb, Tamsin T; Rodger, Euan E; Lawrence, Ben B; Guilford, Parry P; Lasham, Annette A; Print, Cristin G CG
Publication Date: 2023-04-26

Variant appearance in text: KIT: 1939C>T; L647F
PubMed Link: 37099071
Variant Present in the following documents:
  • 40291_2023_651_MOESM1_ESM.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: L647F
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s002.pdf
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: L647F
PubMed Link: 32510566
Variant Present in the following documents:
  • Main text
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: L647F
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: L647F
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: KIT: 1939C>T; Leu647Phe
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing of tyrosine kinase inhibitor-resistant non-small-cell lung cancers in patients harboring epidermal growth factor-activating mutations.

Bmc Cancer
Masago, Katsuhiro K; Fujita, Shiro S; Muraki, Miho M; Hata, Akito A; Okuda, Chiyuki C; Otsuka, Kyoko K; Kaji, Reiko R; Takeshita, Jumpei J; Kato, Ryoji R; Katakami, Nobuyuki N; Hirata, Yukio Y
Publication Date: 2015-11-16

Variant appearance in text: KIT: L647F
PubMed Link: 26572169
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1925.pdf
View BVdb publication page