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KIT c.379_381delinsGAC ;(p.K127D)
Variant ID: 4-55564491-AAA-GAC
NM_000222.2(
KIT
):c.379_381delinsGAC;(p.K127D)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structural basis for stem cell factor-KIT signaling and activation of class III receptor tyrosine kinases.
The Embo Journal
Liu, Heli H; Chen, Xiaoyan X; Focia, Pamela J PJ; He, Xiaolin X
Publication Date: 2007-02-07
Variant appearance in text: KIT: K127D
PubMed Link:
17255936
Variant Present in the following documents:
Main text
View BVdb publication page