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RUNX2 c.1552_1553delinsAA ;(p.W518K)
Variant ID: 6-45515028-TG-AA
NM_001024630.3(
RUNX2
):c.1552_1553delinsAA;(p.W518K)
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:
Cdc42 interaction with N-WASP and Toca-1 regulates membrane tubulation, vesicle formation and vesicle motility: implications for endocytosis.
Plos One
Bu, Wenyu W; Lim, Kim Buay KB; Yu, Yuan Hong YH; Chou, Ai Mei AM; Sudhaharan, Thankiah T; Ahmed, Sohail S
Publication Date: 2010-08-13
Variant appearance in text: CCD: W518K
PubMed Link:
20730103
Variant Present in the following documents:
Main text
pone.0012153.pdf
View BVdb publication page
The Toca-1-N-WASP complex links filopodial formation to endocytosis.
The Journal Of Biological Chemistry
Bu, Wenyu W; Chou, Ai Mei AM; Lim, Kim Buay KB; Sudhaharan, Thankiah T; Ahmed, Sohail S
Publication Date: 2009-04-24
Variant appearance in text: CCD: W518K
PubMed Link:
19213734
Variant Present in the following documents:
Main text
View BVdb publication page