KIT c.2075C>T ;(p.S692L)

Variant ID: 4-55595585-C-T

NM_000222.2(KIT):c.2075C>T;(p.S692L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: KIT: S692L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: S692L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: 2075C>T; Ser692Leu
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Detection of Crizotinib-Sensitive Lung Adenocarcinomas With MET, ALK, and ROS1 Genomic Alterations via Comprehensive Genomic Profiling.

Clinical Lung Cancer
Le, Xiuning X; Freed, Jason A JA; VanderLaan, Paul A PA; Huberman, Mark S MS; Rangachari, Deepa D; Jorge, Susan E SE; Lucena-Araujo, Antonio R AR; Kobayashi, Susumu S SS; Balasubramanian, Sohail S; He, Jie J; Chudnovsky, Yakov Y; Miller, Vincent A VA; Ali, Siraj M SM; Costa, Daniel B DB
Publication Date: 2015-09

Variant appearance in text: KIT: S692L
PubMed Link: 25922291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Management of early asymptomatic gastrointestinal stromal tumors of the stomach.

World Journal Of Gastrointestinal Endoscopy
Scherübl, Hans H; Faiss, Siegbert S; Knoefel, Wolfram-Trudo WT; Wardelmann, Eva E
Publication Date: 2014-07-16

Variant appearance in text: KIT: Ser692Leu
PubMed Link: 25031785
Variant Present in the following documents:
  • Main text
View BVdb publication page