KIT c.2576T>C ;(p.L859P)

Variant ID: 4-55602755-T-C

NM_000222.2(KIT):c.2576T>C;(p.L859P)

This variant was identified in 5 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: L859P
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s002.pdf
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: L859P
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: L859P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies.

The Journal Of Molecular Diagnostics : Jmd
Fisher, Kevin E KE; Zhang, Linsheng L; Wang, Jason J; Smith, Geoffrey H GH; Newman, Scott S; Schneider, Thomas M TM; Pillai, Rathi N RN; Kudchadkar, Ragini R RR; Owonikoko, Taofeek K TK; Ramalingam, Suresh S SS; Lawson, David H DH; Delman, Keith A KA; El-Rayes, Bassel F BF; Wilson, Malania M MM; Sullivan, H Clifford HC; Morrison, Annie S AS; Balci, Serdar S; Adsay, N Volkan NV; Gal, Anthony A AA; Sica, Gabriel L GL; Saxe, Debra F DF; Mann, Karen P KP; Hill, Charles E CE; Khuri, Fadlo R FR; Rossi, Michael R MR
Publication Date: 2016-03

Variant appearance in text: KIT: Leu859Pro
PubMed Link: 26801070
Variant Present in the following documents:
  • Main text
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: L859P
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page