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RUNX2 c.203A>T ;(p.Q68L)
Variant ID: 6-45390474-A-T
NM_001024630.3(
RUNX2
):c.203A>T;(p.Q68L)
This variant was identified in 14 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson's disease.
Acta Neuropathologica
Iovino, Ludovica L; Giusti, Veronica V; Pischedda, Francesca F; Giusto, Elena E; Plotegher, Nicoletta N; Marte, Antonella A; Battisti, Ilaria I; Di Iacovo, Angela A; Marku, Algerta A; Piccoli, Giovanni G; Bandopadhyay, Rina R; Perego, Carla C; Bonifacino, Tiziana T; Bonanno, Giambattista G; Roseti, Cristina C; Bossi, Elena E; Arrigoni, Giorgio G; Bubacco, Luigi L; Greggio, Elisa E; Hilfiker, Sabine S; Civiero, Laura L
Publication Date: 2022-07
Variant appearance in text: CCD: Q68L
PubMed Link:
35596783
Variant Present in the following documents:
Main text
401_2022_Article_2437.pdf
View BVdb publication page
Rab5-independent activation and function of yeast Rab7-like protein, Ypt7p, in the AP-3 pathway.
Plos One
Shimamura, Hiroki H; Nagano, Makoto M; Nakajima, Keita K; Toshima, Junko Y JY; Toshima, Jiro J
Publication Date: 2019
Variant appearance in text: CCD: Q68L
PubMed Link:
30682048
Variant Present in the following documents:
Main text
pone.0210223.pdf
View BVdb publication page
Meiosis-specific localization of the exocytic Rab Ypt2 in fission yeast.
Small Gtpases
Imada, Kazuki K; Nakamura, Taro T
Publication Date: 2020-03
Variant appearance in text: CCD: Q68L
PubMed Link:
28876998
Variant Present in the following documents:
Main text
ksgt-11-02-1356425.pdf
View BVdb publication page
The recycling endosome protein RAB-10 promotes autophagic flux and localization of the transmembrane protein ATG-9.
Autophagy
Palmisano, N J NJ; Rosario, N N; Wysocki, M M; Hong, M M; Grant, B B; Meléndez, A A
Publication Date: 2017-10-03
Variant appearance in text: CCD: Q68L
PubMed Link:
28872980
Variant Present in the following documents:
Main text
View BVdb publication page
Zds1/Zds2-PP2ACdc55 complex specifies signaling output from Rho1 GTPase.
The Journal Of Cell Biology
Jonasson, Erin M EM; Rossio, Valentina V; Hatakeyama, Riko R; Abe, Mitsuhiro M; Ohya, Yoshikazu Y; Yoshida, Satoshi S
Publication Date: 2016-01-04
Variant appearance in text: CCD: Q68L
PubMed Link:
26728856
Variant Present in the following documents:
JCB_201508119.pdf
View BVdb publication page
The GTPase-activating protein Rga1 interacts with Rho3 GTPase and may regulate its function in polarized growth in budding yeast.
Plos One
He, Fei F; Nie, Wen-Chao WC; Tong, Zongtian Z; Yuan, Si-Min SM; Gong, Ting T; Liao, Yuan Y; Bi, Erfei E; Gao, Xiang-Dong XD
Publication Date: 2015
Variant appearance in text: CCD: Q68L
PubMed Link:
25860339
Variant Present in the following documents:
Main text
View BVdb publication page
The crystal structure of the plant small GTPase OsRac1 reveals its mode of binding to NADPH oxidase.
The Journal Of Biological Chemistry
Kosami, Ken-ichi K; Ohki, Izuru I; Nagano, Minoru M; Furuita, Kyoko K; Sugiki, Toshihiko T; Kawano, Yoji Y; Kawasaki, Tsutomu T; Fujiwara, Toshimichi T; Nakagawa, Atsushi A; Shimamoto, Ko K; Kojima, Chojiro C
Publication Date: 2014-10-10
Variant appearance in text: CCD: Q68L
PubMed Link:
25128531
Variant Present in the following documents:
Main text
View BVdb publication page
Med13p prevents mitochondrial fission and programmed cell death in yeast through nuclear retention of cyclin C.
Molecular Biology Of The Cell
Khakhina, Svetlana S; Cooper, Katrina F KF; Strich, Randy R
Publication Date: 2014-09-15
Variant appearance in text: CCD: Q68L
PubMed Link:
25057017
Variant Present in the following documents:
Main text
2807.pdf
View BVdb publication page
Purification, crystallization and preliminary X-ray crystallographic analysis of a rice Rac/Rop GTPase, OsRac1.
Acta Crystallographica. Section F, Structural Biology Communications
Kosami, Ken-ichi K; Ohki, Izuru I; Hayashi, Kokoro K; Tabata, Ryo R; Usugi, Sayaka S; Kawasaki, Tsutomu T; Fujiwara, Toshimichi T; Nakagawa, Atsushi A; Shimamoto, Ko K; Kojima, Chojiro C
Publication Date: 2014-01
Variant appearance in text: CCD: Q68L
PubMed Link:
24419631
Variant Present in the following documents:
Main text
View BVdb publication page
EHBP-1 functions with RAB-10 during endocytic recycling in Caenorhabditis elegans.
Molecular Biology Of The Cell
Shi, Anbing A; Chen, Carlos Chih-Hsiung CC; Banerjee, Riju R; Glodowski, Doreen D; Audhya, Anjon A; Rongo, Christopher C; Grant, Barth D BD
Publication Date: 2010-08-15
Variant appearance in text: CCD: Q68L
PubMed Link:
20573983
Variant Present in the following documents:
Main text
View BVdb publication page
Rab10 regulates membrane transport through early endosomes of polarized Madin-Darby canine kidney cells.
Molecular Biology Of The Cell
Babbey, Clifford M CM; Ahktar, Nahid N; Wang, Exing E; Chen, Carlos Chih-Hsiung CC; Grant, Barth D BD; Dunn, Kenneth W KW
Publication Date: 2006-07
Variant appearance in text: CCD: Q68L
PubMed Link:
16641372
Variant Present in the following documents:
Main text
View BVdb publication page
RAB-10 is required for endocytic recycling in the Caenorhabditis elegans intestine.
Molecular Biology Of The Cell
Chen, Carlos Chih-Hsiung CC; Schweinsberg, Peter J PJ; Vashist, Shilpa S; Mareiniss, Darren P DP; Lambie, Eric J EJ; Grant, Barth D BD
Publication Date: 2006-03
Variant appearance in text: CCD: Q68L
PubMed Link:
16394106
Variant Present in the following documents:
Main text
View BVdb publication page
Sec17p and HOPS, in distinct SNARE complexes, mediate SNARE complex disruption or assembly for fusion.
The Embo Journal
Collins, Kevin M KM; Thorngren, Naomi L NL; Fratti, Rutilio A RA; Wickner, William T WT
Publication Date: 2005-05-18
Variant appearance in text: CCD: Q68L
PubMed Link:
15889152
Variant Present in the following documents:
Main text
View BVdb publication page
Lack of GTP-bound Rho1p in secretory vesicles of Saccharomyces cerevisiae.
The Journal Of Cell Biology
Abe, Mitsuhiro M; Qadota, Hiroshi H; Hirata, Aiko A; Ohya, Yoshikazu Y
Publication Date: 2003-07-07
Variant appearance in text: CCD: Q68L
PubMed Link:
12847085
Variant Present in the following documents:
Main text
200301022.pdf
View BVdb publication page