Bibliome.ai browser hg19
Search
About
Stats
FAQ
RUNX2 c.142_143delinsTG ;(p.A48W)
Variant ID: 6-45390413-GC-TG
NM_001024630.3(
RUNX2
):c.142_143delinsTG;(p.A48W)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
RalA promotes a direct exocyst-Par6 interaction to regulate polarity in neuronal development.
Journal Of Cell Science
Das, Amlan A; Gajendra, Sangeetha S; Falenta, Katarzyna K; Oudin, Madeleine J MJ; Peschard, Pascal P; Feng, Shanshan S; Wu, Bin B; Marshall, Christopher J CJ; Doherty, Patrick P; Guo, Wei W; Lalli, Giovanna G
Publication Date: 2014-02-01
Variant appearance in text: CCD: A48W
PubMed Link:
24284074
Variant Present in the following documents:
Main text
View BVdb publication page
Distinct roles of RalA and RalB in the progression of cytokinesis are supported by distinct RalGEFs.
The Embo Journal
Cascone, Ilaria I; Selimoglu, Rasim R; Ozdemir, Cafer C; Del Nery, Elaine E; Yeaman, Charles C; White, Michael M; Camonis, Jacques J
Publication Date: 2008-09-17
Variant appearance in text: CCD: A48W
PubMed Link:
18756269
Variant Present in the following documents:
Main text
View BVdb publication page
Exo84 and Sec5 are competitive regulatory Sec6/8 effectors to the RalA GTPase.
The Embo Journal
Jin, Rongsheng R; Junutula, Jagath R JR; Matern, Hugo T HT; Ervin, Karen E KE; Scheller, Richard H RH; Brunger, Axel T AT
Publication Date: 2005-06-15
Variant appearance in text: CCD: A48W
PubMed Link:
15920473
Variant Present in the following documents:
Main text
View BVdb publication page