KIT c.1522_1524del ;(p.F508del)

Variant ID: 4-55592198-ATTT-A

NM_000222.2(KIT):c.1522_1524del;(p.F508del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Glycated Albumin Triggers an Inflammatory Response in the Human Airway Epithelium and Causes an Increase in Ciliary Beat Frequency.

Frontiers In Physiology
Aitken, Moira L ML; Somayaji, Ranjani R; Hinds, Thomas R TR; Pier, Maricela M; Droguett, Karla K; Rios, Mariana M; Skerrett, Shawn J SJ; Villalon, Manuel M
Publication Date: 2021

Variant appearance in text: KIT: F508del
PubMed Link: 33967824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-transcriptome-based candidate therapeutic discovery for idiopathic pulmonary fibrosis.

Therapeutic Advances In Respiratory Disease
Wang, Yunguan Y; Yella, Jaswanth K JK; Ghandikota, Sudhir S; Cherukuri, Tejaswini C TC; Ediga, Harshavardhana H HH; Madala, Satish K SK; Jegga, Anil G AG
Publication Date: 2020

Variant appearance in text: KIT: F508del
PubMed Link: 33167785
Variant Present in the following documents:
  • 10.1177_1753466620971143.pdf
View BVdb publication page



Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G
Publication Date: 2020-04

Variant appearance in text: KIT: Phe508del
PubMed Link: 31844177
Variant Present in the following documents:
  • 41436_2019_720_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page