KIT c.1670G>T ;(p.W557L)

Variant ID: 4-55593604-G-T

NM_000222.2(KIT):c.1670G>T;(p.W557L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: KIT: Trp557Leu
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page



A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.

Journal Of Personalized Medicine
Fornasarig, Mara M; Gasparotto, Daniela D; Foltran, Luisa L; Campigotto, Michele M; Lombardi, Sara S; Del Savio, Elisa E; Buonadonna, Angela A; Puglisi, Fabio F; Sulfaro, Sandro S; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Maestro, Roberta R
Publication Date: 2020-11-17

Variant appearance in text: KIT: W557L
PubMed Link: 33212994
Variant Present in the following documents:
  • Main text
  • jpm-10-00234.pdf
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: W557L
PubMed Link: 30603682
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page