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F2 c.1549_1550delinsGC ;(p.K517A)
Variant ID: 11-46751006-AA-GC
NM_000506.3(
F2
):c.1549_1550delinsGC;(p.K517A)
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 human full-length kindlin-3 homotrimer in an auto-inhibited state.
Plos Biology
Bu, Wenting W; Levitskaya, Zarina Z; Loh, Zhi Yang ZY; Jin, Shengyang S; Basu, Shibom S; Ero, Rya R; Yan, Xinfu X; Wang, Meitian M; Ngan, So Fong Cam SFC; Sze, Siu Kwan SK; Tan, Suet-Mien SM; Gao, Yong-Gui YG
Publication Date: 2020-07
Variant appearance in text: F2: K517A
PubMed Link:
32644996
Variant Present in the following documents:
Main text
pbio.3000755.pdf
View BVdb publication page