RUNX2 c.209A>T ;(p.Q70L)

Variant ID: 6-45390480-A-T

NM_001024630.3(RUNX2):c.209A>T;(p.Q70L)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


SPIN90 Deficiency Ameliorates Amyloid β Accumulation by Regulating APP Trafficking in AD Model Mice.

International Journal Of Molecular Sciences
Oh, Youngsoo Y; Lee, Wongyoung W; Kim, So Hee SH; Lee, Sooji S; Kim, Byeong C BC; Lee, Kun Ho KH; Kim, Sung Hyun SH; Song, Woo Keun WK
Publication Date: 2022-09-12

Variant appearance in text: CCD: Q70L
PubMed Link: 36142484
Variant Present in the following documents:
  • Main text
  • ijms-23-10563.pdf
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Arl15 upregulates the TGFβ family signaling by promoting the assembly of the Smad-complex.

Elife
Shi, Meng M; Tie, Hieng Chiong HC; Divyanshu, Mahajan M; Sun, Xiuping X; Zhou, Yan Y; Boh, Boon Kim BK; Vardy, Leah A LA; Lu, Lei L
Publication Date: 2022-07-14

Variant appearance in text: CCD: Q70L
PubMed Link: 35834310
Variant Present in the following documents:
  • Main text
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Higher-order assembly of Sorting Nexin 16 controls tubulation and distribution of neuronal endosomes.

The Journal Of Cell Biology
Wang, ShiYu S; Zhao, Zechuan Z; Rodal, Avital A AA
Publication Date: 2019-08-05

Variant appearance in text: CCD: Q70L
PubMed Link: 31253649
Variant Present in the following documents:
  • Main text
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Genetic dissection of a Leishmania flagellar proteome demonstrates requirement for directional motility in sand fly infections.

Plos Pathogens
Beneke, Tom T; Demay, François F; Hookway, Edward E; Ashman, Nicole N; Jeffery, Heather H; Smith, James J; Valli, Jessica J; Becvar, Tomas T; Myskova, Jitka J; Lestinova, Tereza T; Shafiq, Shahaan S; Sadlova, Jovana J; Volf, Petr P; Wheeler, Richard John RJ; Gluenz, Eva E
Publication Date: 2019-06

Variant appearance in text: CCD: Q70L
PubMed Link: 31242261
Variant Present in the following documents:
  • Main text
  • ppat.1007828.pdf
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The unusual flagellar-targeting mechanism and functions of the trypanosome ortholog of the ciliary GTPase Arl13b.

Journal Of Cell Science
Zhang, Yiliu Y; Huang, Yameng Y; Srivathsan, Amrita A; Lim, Teck Kwang TK; Lin, Qingsong Q; He, Cynthia Y CY
Publication Date: 2018-09-05

Variant appearance in text: CCD: Q70L
PubMed Link: 30097558
Variant Present in the following documents:
  • Main text
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Dysregulated phosphorylation of Rab GTPases by LRRK2 induces neurodegeneration.

Molecular Neurodegeneration
Jeong, Ga Ram GR; Jang, Eun-Hae EH; Bae, Jae Ryul JR; Jun, Soyoung S; Kang, Ho Chul HC; Park, Chi-Hu CH; Shin, Joo-Ho JH; Yamamoto, Yukio Y; Tanaka-Yamamoto, Keiko K; Dawson, Valina L VL; Dawson, Ted M TM; Hur, Eun-Mi EM; Lee, Byoung Dae BD
Publication Date: 2018-02-13

Variant appearance in text: CCD: Q70L
PubMed Link: 29439717
Variant Present in the following documents:
  • Main text
  • 13024_2018_Article_240.pdf
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Dopamine receptors reveal an essential role of IFT-B, KIF17, and Rab23 in delivering specific receptors to primary cilia.

Elife
Leaf, Alison A; Von Zastrow, Mark M
Publication Date: 2015-07-16

Variant appearance in text: CCD: Q70L
PubMed Link: 26182404
Variant Present in the following documents:
  • Main text
  • elife06996.pdf
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A role for Rab14 in the endocytic trafficking of GLUT4 in 3T3-L1 adipocytes.

Journal Of Cell Science
Reed, Sam E SE; Hodgson, Lorna R LR; Song, Shuang S; May, Margaret T MT; Kelly, Eoin E EE; McCaffrey, Mary W MW; Mastick, Cynthia C CC; Verkade, Paul P; Tavaré, Jeremy M JM
Publication Date: 2013-05-01

Variant appearance in text: CCD: Q70L
PubMed Link: 23444368
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rac and Rab GTPases dual effector Nischarin regulates vesicle maturation to facilitate survival of intracellular bacteria.

The Embo Journal
Kuijl, Coenraad C; Pilli, Manohar M; Alahari, Suresh K SK; Janssen, Hans H; Khoo, Poh-Sim PS; Ervin, Karen E KE; Calero, Monica M; Jonnalagadda, Sobhanaditya S; Scheller, Richard H RH; Neefjes, Jacques J; Junutula, Jagath R JR
Publication Date: 2013-03-06

Variant appearance in text: CCD: Q70L
PubMed Link: 23386062
Variant Present in the following documents:
  • Main text
View BVdb publication page



RAB-10-GTPase-mediated regulation of endosomal phosphatidylinositol-4,5-bisphosphate.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shi, Anbing A; Liu, Ou O; Koenig, Sabine S; Banerjee, Riju R; Chen, Carlos Chih-Hsiung CC; Eimer, Stefan S; Grant, Barth D BD
Publication Date: 2012-08-28

Variant appearance in text: CCD: Q70L
PubMed Link: 22869721
Variant Present in the following documents:
  • Main text
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Rab11b regulates the trafficking and recycling of the epithelial sodium channel (ENaC).

American Journal Of Physiology. Renal Physiology
Butterworth, Michael B MB; Edinger, Robert S RS; Silvis, Mark R MR; Gallo, Luciana I LI; Liang, Xiubin X; Apodaca, Gerard G; Frizzell, Raymond A RA; Fizzell, Raymond A RA; Johnson, John P JP
Publication Date: 2012-03-01

Variant appearance in text: CCD: Q70L
PubMed Link: 22129970
Variant Present in the following documents:
  • Main text
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Rab11a and its binding partners regulate the recycling of the ß1-adrenergic receptor.

Cellular Signalling
Gardner, Lidia A LA; Hajjhussein, Hassan H; Frederick-Dyer, Katherine C KC; Bahouth, Suleiman W SW
Publication Date: 2011-01

Variant appearance in text: CCD: Q70L
PubMed Link: 20727405
Variant Present in the following documents:
  • Main text
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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: Q70L
PubMed Link: 20573983
Variant Present in the following documents:
  • Main text
View BVdb publication page



Coordination of Rab8 and Rab11 in primary ciliogenesis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Knödler, Andreas A; Feng, Shanshan S; Zhang, Jian J; Zhang, Xiaoyu X; Das, Amlan A; Peränen, Johan J; Guo, Wei W
Publication Date: 2010-04-06

Variant appearance in text: CCD: Q70L
PubMed Link: 20308558
Variant Present in the following documents:
  • Main text
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The Rip11/Rab11-FIP5 and kinesin II complex regulates endocytic protein recycling.

Journal Of Cell Science
Schonteich, Eric E; Wilson, Gayle M GM; Burden, Jemima J; Hopkins, Colin R CR; Anderson, Keith K; Goldenring, James R JR; Prekeris, Rytis R
Publication Date: 2008-11-15

Variant appearance in text: CCD: Q70L
PubMed Link: 18957512
Variant Present in the following documents:
  • Main text
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Rab14 regulates apical targeting in polarized epithelial cells.

Traffic (Copenhagen, Denmark)
Kitt, Khameeka N KN; Hernández-Deviez, Delia D; Ballantyne, Sarah D SD; Spiliotis, Elias T ET; Casanova, James E JE; Wilson, Jean M JM
Publication Date: 2008-07

Variant appearance in text: CCD: Q70L
PubMed Link: 18429929
Variant Present in the following documents:
  • Main text
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A functional role for the GCC185 golgin in mannose 6-phosphate receptor recycling.

Molecular Biology Of The Cell
Reddy, Jonathan V JV; Burguete, Alondra Schweizer AS; Sridevi, Khambhampaty K; Ganley, Ian G IG; Nottingham, Ryan M RM; Pfeffer, Suzanne R SR
Publication Date: 2006-10

Variant appearance in text: CCD: Q70L
PubMed Link: 16885419
Variant Present in the following documents:
  • Main text
View BVdb publication page