Bibliome.ai browser hg19
Search
About
Stats
FAQ
KIT c.1823C>A ;(p.A608D)
Variant ID: 4-55594037-C-A
NM_000222.2(
KIT
):c.1823C>A;(p.A608D)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Tyrosine Kinase Receptors in Oncology.
International Journal Of Molecular Sciences
Esteban-Villarrubia, Jorge J; Soto-Castillo, Juan José JJ; Pozas, Javier J; San Román-Gil, María M; Orejana-Martín, Inmaculada I; Torres-Jiménez, Javier J; Carrato, Alfredo A; Alonso-Gordoa, Teresa T; Molina-Cerrillo, Javier J
Publication Date: 2020-11-12
Variant appearance in text: KIT: A608D
PubMed Link:
33198314
Variant Present in the following documents:
ijms-21-08529.pdf
View BVdb publication page
[Chinese Expert Consensus on Next Generation Sequencing Diagnosis for Non-small Cell Lung Cancer (2020 Edition)].
Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
,
Publication Date: 2020-09-20
Variant appearance in text: KIT: A608D
PubMed Link:
32957170
Variant Present in the following documents:
zgfazz-23-9-741.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: A608D
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
A novel KIT mutation in a family with expanded syndrome of piebaldism.
Jaad Case Reports
Hamadah, Issam I; Chisti, Muzamil M; Haider, Mansoor M; Al Dosssari, Haya H; Alhumaidan, Rawan R; Meyer, Brian F BF; Wakil, Salma M SM
Publication Date: 2019-07
Variant appearance in text: KIT: 1823C>A; Ala608Asp
PubMed Link:
31341943
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page