KIT c.2494C>T ;(p.P832S)

Variant ID: 4-55602673-C-T

NM_000222.2(KIT):c.2494C>T;(p.P832S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Somatic Mutation Profiling in the Liquid Biopsy and Clinical Analysis of Hereditary and Familial Pancreatic Cancer Cases Reveals KRAS Negativity and a Longer Overall Survival.

Cancers
Earl, Julie J; Barreto, Emma E; Castillo, María E ME; Fuentes, Raquel R; Rodríguez-Garrote, Mercedes M; Ferreiro, Reyes R; Reguera, Pablo P; Muñoz, Gloria G; Garcia-Seisdedos, David D; López, Jorge Villalón JV; Sainz, Bruno B; Malats, Nuria N; Carrato, Alfredo A
Publication Date: 2021-03-31

Variant appearance in text: KIT: Pro832Ser
PubMed Link: 33807330
Variant Present in the following documents:
  • Main text
  • cancers-13-01612.pdf
View BVdb publication page



Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: KIT: 2494C>T; Pro832Ser
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s010.xlsx, sheet 1
  • peerj-08-10069-s009.xlsx, sheet 1
View BVdb publication page



Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis.

Virchows Archiv : An International Journal Of Pathology
Tóth, Béla B; Kiss, Norbert N; Hársing, Judit J; Kárpáti, Sarolta S; Csomor, Judit J; Bödör, Csaba C; Tímár, József J; Rásó, Erzsébet E
Publication Date: 2020-11

Variant appearance in text: KIT: P832S
PubMed Link: 32372223
Variant Present in the following documents:
  • Main text
  • 428_2020_Article_2820.pdf
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: P832S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon
Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S
Publication Date: 2018-12

Variant appearance in text: KIT: P832S
PubMed Link: 30603682
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page