KIFAP3 c.842-2065G>A

Variant ID: 1-169995802-C-T

NM_014970.3(KIFAP3):c.842-2065G>A

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1541160
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.

Bmc Medicine
Su, Wei-Ming WM; Gu, Xiao-Jing XJ; Duan, Qing-Qing QQ; Jiang, Zheng Z; Gao, Xia X; Shang, Hui-Fang HF; Chen, Yong-Ping YP
Publication Date: 2022-06-27

Variant appearance in text: rs1541160
PubMed Link: 35754054
Variant Present in the following documents:
  • Main text
  • 12916_2022_Article_2411.pdf
View BVdb publication page



Genetics of Amyotrophic Lateral Sclerosis.

Cold Spring Harbor Perspectives In Medicine
Ghasemi, Mehdi M; Brown, Robert H RH
Publication Date: 2018-05-01

Variant appearance in text: rs1541160
PubMed Link: 28270533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Jama Neurology
Fogh, Isabella I; Lin, Kuang K; Tiloca, Cinzia C; Rooney, James J; Gellera, Cinzia C; Diekstra, Frank P FP; Ratti, Antonia A; Shatunov, Aleksey A; van Es, Michael A MA; Proitsi, Petroula P; Jones, Ashley A; Sproviero, William W; Chiò, Adriano A; McLaughlin, Russell Lewis RL; Sorarù, Gianni G; Corrado, Lucia L; Stahl, Daniel D; Del Bo, Roberto R; Cereda, Cristina C; Castellotti, Barbara B; Glass, Jonathan D JD; Newhouse, Steven S; Dobson, Richard R; Smith, Bradley N BN; Topp, Simon S; van Rheenen, Wouter W; Meininger, Vincent V; Melki, Judith J; Morrison, Karen E KE; Shaw, Pamela J PJ; Leigh, P Nigel PN; Andersen, Peter M PM; Comi, Giacomo P GP; Ticozzi, Nicola N; Mazzini, Letizia L; D'Alfonso, Sandra S; Traynor, Bryan J BJ; Van Damme, Philip P; Robberecht, Wim W; Brown, Robert H RH; Landers, John E JE; Hardiman, Orla O; Lewis, Cathryn M CM; van den Berg, Leonard H LH; Shaw, Christopher E CE; Veldink, Jan H JH; Silani, Vincenzo V; Al-Chalabi, Ammar A; Powell, John J
Publication Date: 2016-07-01

Variant appearance in text: rs1541160
PubMed Link: 27244217
Variant Present in the following documents:
  • Main text
View BVdb publication page



CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis.

Plos One
Lopez-Lopez, Alan A; Gamez, Josep J; Syriani, Emilio E; Morales, Miguel M; Salvado, Maria M; Rodríguez, Manuel J MJ; Mahy, Nicole N; Vidal-Taboada, Jose M JM
Publication Date: 2014

Variant appearance in text: rs1541160
PubMed Link: 24806473
Variant Present in the following documents:
  • Main text
  • pone.0096528.pdf
View BVdb publication page



Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Neurobiology Of Aging
Ahmeti, Kreshnik B KB; Ajroud-Driss, Senda S; Al-Chalabi, Ammar A; Andersen, Peter M PM; Armstrong, Jennifer J; Birve, Anne A; Blauw, Hylke M HM; Brown, Robert H RH; Bruijn, Lucie L; Chen, Wenjie W; Chio, Adriano A; Comeau, Mary C MC; Cronin, Simon S; Diekstra, Frank P FP; Soraya Gkazi, Athina A; Glass, Jonathan D JD; Grab, Josh D JD; Groen, Ewout J EJ; Haines, Jonathan L JL; Hardiman, Orla O; Heller, Scott S; Huang, Jie J; Hung, Wu-Yen WY; , ; Jaworski, James M JM; Jones, Ashley A; Khan, Humaira H; Landers, John E JE; Langefeld, Carl D CD; Leigh, P Nigel PN; Marion, Miranda C MC; McLaughlin, Russell L RL; Meininger, Vincent V; Melki, Judith J; Miller, Jack W JW; Mora, Gabriele G; Pericak-Vance, Margaret A MA; Rampersaud, Evadnie E; Robberecht, Wim W; Russell, Laurie P LP; Salachas, Francois F; Saris, Christiaan G CG; Shatunov, Aleksey A; Shaw, Christopher E CE; Siddique, Nailah N; Siddique, Teepu T; Smith, Bradley N BN; Sufit, Robert R; Topp, Simon S; Traynor, Bryan J BJ; Vance, Caroline C; van Damme, Philip P; van den Berg, Leonard H LH; van Es, Michael A MA; van Vught, Paul W PW; Veldink, Jan H JH; Yang, Yi Y; Zheng, J G JG; ,
Publication Date: 2013-01

Variant appearance in text: rs1541160
PubMed Link: 22959728
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linking disease associations with regulatory information in the human genome.

Genome Research
Schaub, Marc A MA; Boyle, Alan P AP; Kundaje, Anshul A; Batzoglou, Serafim S; Snyder, Michael M
Publication Date: 2012-09

Variant appearance in text: rs1541160
PubMed Link: 22955986
Variant Present in the following documents:
  • Main text
  • 1748.pdf
View BVdb publication page



Genetic architecture of microRNA expression: implications for the transcriptome and complex traits.

American Journal Of Human Genetics
Gamazon, Eric R ER; Ziliak, Dana D; Im, Hae Kyung HK; LaCroix, Bonnie B; Park, Danny S DS; Cox, Nancy J NJ; Huang, R Stephanie RS
Publication Date: 2012-06-08

Variant appearance in text: rs1541160
PubMed Link: 22658545
Variant Present in the following documents:
  • Main text
View BVdb publication page



A high-density genome-wide association screen of sporadic ALS in US veterans.

Plos One
Kwee, Lydia Coulter LC; Liu, Yutao Y; Haynes, Carol C; Gibson, Jason R JR; Stone, Annjanette A; Schichman, Steven A SA; Kamel, Freya F; Nelson, Lorene M LM; Topol, Barbara B; Van den Eeden, Stephen K SK; Tanner, Caroline M CM; Cudkowicz, Merit E ME; Grasso, Daniela L DL; Lawson, Robert R; Muralidhar, Sumitra S; Oddone, Eugene Z EZ; Schmidt, Silke S; Hauser, Michael A MA
Publication Date: 2012

Variant appearance in text: rs1541160
PubMed Link: 22470424
Variant Present in the following documents:
  • Main text
  • pone.0032768.pdf
View BVdb publication page



Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Traynor, Bryan J BJ; Nalls, Michael M; Lai, Shiao-Lin SL; Gibbs, Raphael J RJ; Schymick, Jennifer C JC; Arepalli, Sampath S; Hernandez, Dena D; van der Brug, Marcel P MP; Johnson, Janel O JO; Dillman, Allissa A; Cookson, Mark M; Moglia, Cristina C; Calvo, Andrea A; Restagno, Gabriella G; Mora, Gabriele G; Chiò, Adriano A
Publication Date: 2010-07-06

Variant appearance in text: rs1541160
PubMed Link: 20566859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Landers, John E JE; Melki, Judith J; Meininger, Vincent V; Glass, Jonathan D JD; van den Berg, Leonard H LH; van Es, Michael A MA; Sapp, Peter C PC; van Vught, Paul W J PW; McKenna-Yasek, Diane M DM; Blauw, Hylke M HM; Cho, Ting-Jan TJ; Polak, Meraida M; Shi, Lijia L; Wills, Anne-Marie AM; Broom, Wendy J WJ; Ticozzi, Nicola N; Silani, Vincenzo V; Ozoguz, Aslihan A; Rodriguez-Leyva, Ildefonso I; Veldink, Jan H JH; Ivinson, Adrian J AJ; Saris, Christiaan G J CG; Hosler, Betsy A BA; Barnes-Nessa, Alayna A; Couture, Nicole N; Wokke, John H J JH; Kwiatkowski, Thomas J TJ; Ophoff, Roel A RA; Cronin, Simon S; Hardiman, Orla O; Diekstra, Frank P FP; Leigh, P Nigel PN; Shaw, Christopher E CE; Simpson, Claire L CL; Hansen, Valerie K VK; Powell, John F JF; Corcia, Philippe P; Salachas, François F; Heath, Simon S; Galan, Pilar P; Georges, Franck F; Horvitz, H Robert HR; Lathrop, Mark M; Purcell, Shaun S; Al-Chalabi, Ammar A; Brown, Robert H RH
Publication Date: 2009-06-02

Variant appearance in text: rs1541160
PubMed Link: 19451621
Variant Present in the following documents:
  • Main text
View BVdb publication page