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KIT c.2086_2087delinsCG ;(p.D696R)
Variant ID: 4-55595596-GA-CG
NM_000222.2(
KIT
):c.2086_2087delinsCG;(p.D696R)
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 of Tie2 activation and Tie2/Tie1 heterodimerization.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Leppänen, Veli-Matti VM; Saharinen, Pipsa P; Alitalo, Kari K
Publication Date: 2017-04-25
Variant appearance in text: KIT: D696R
PubMed Link:
28396439
Variant Present in the following documents:
Main text
View BVdb publication page