KIT c.1658A>C ;(p.Y553S)

Variant ID: 4-55593592-A-C

NM_000222.2(KIT):c.1658A>C;(p.Y553S)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

A Novel System for Functional Determination of Variants of Uncertain Significance using Deep Convolutional Neural Networks.

Scientific Reports
Zimmerman, Lior L; Zelichov, Ori O; Aizenmann, Arie A; Barbash, Zohar Z; Vidne, Michael M; Tarcic, Gabi G
Publication Date: 2020-03-06

Variant appearance in text: KIT: Y553S
PubMed Link: 32144301
Variant Present in the following documents:
  • 41598_2020_Article_61173.pdf
View BVdb publication page


Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

Scientific Reports
de Unamuno Bustos, Blanca B; Murria Estal, Rosa R; Pérez Simó, Gema G; de Juan Jimenez, Inmaculada I; Escutia Muñoz, Begoña B; Rodríguez Serna, Mercedes M; Alegre de Miquel, Victor V; Llavador Ros, Margarita M; Ballester Sánchez, Rosa R; Nagore Enguídanos, Eduardo E; Palanca Suela, Sarai S; Botella Estrada, Rafael R
Publication Date: 2017-03-29

Variant appearance in text: KIT: Tyr553Ser
PubMed Link: 28356599
Variant Present in the following documents:
  • Main text
  • 41598_2017_606_MOESM2_ESM.xls, sheet 1
  • 41598_2017_Article_606.pdf
View BVdb publication page