IQGAP2 c.1522-2263A>G

Variant ID: 5-75920972-A-G

NM_006633.2(IQGAP2):c.1522-2263A>G

This variant was identified in 5 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: rs457717
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.

Scientific Reports
Nagtegaal, Andries Paul AP; Broer, Linda L; Zilhao, Nuno R NR; Jakobsdottir, Johanna J; Bishop, Charles E CE; Brumat, Marco M; Christiansen, Mark W MW; Cocca, Massimiliano M; Gao, Yan Y; Heard-Costa, Nancy L NL; Evans, Daniel S DS; Pankratz, Nathan N; Pratt, Sheila R SR; Price, T Ryan TR; Spankovich, Christopher C; Stimson, Mary R MR; Valle, Karen K; Vuckovic, Dragana D; Wells, Helena H; Eiriksdottir, Gudny G; Fransen, Erik E; Ikram, Mohammad Arfan MA; Li, Chuang-Ming CM; Longstreth, W T WT; Steves, Claire C; Van Camp, Guy G; Correa, Adolfo A; Cruickshanks, Karen J KJ; Gasparini, Paolo P; Girotto, Giorgia G; Kaplan, Robert C RC; Nalls, Michael M; Schweinfurth, John M JM; Seshadri, Sudha S; Sotoodehnia, Nona N; Tranah, Gregory J GJ; Uitterlinden, André G AG; Wilson, James G JG; Gudnason, Vilmundur V; Hoffman, Howard J HJ; Williams, Frances M K FMK; Goedegebure, André A
Publication Date: 2019-10-23

Variant appearance in text: rs457717
PubMed Link: 31645637
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_51630.pdf
View BVdb publication page



GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.

American Journal Of Human Genetics
Wells, Helena R R HRR; Freidin, Maxim B MB; Zainul Abidin, Fatin N FN; Payton, Antony A; Dawes, Piers P; Munro, Kevin J KJ; Morton, Cynthia C CC; Moore, David R DR; Dawson, Sally J SJ; Williams, Frances M K FMK
Publication Date: 2019-10-03

Variant appearance in text: rs457717
PubMed Link: 31564434
Variant Present in the following documents:
  • Main text
View BVdb publication page



Watch the GAP: Emerging Roles for IQ Motif-Containing GTPase-Activating Proteins IQGAPs in Hepatocellular Carcinoma.

International Journal Of Hepatology
Schmidt, Valentina A VA
Publication Date: 2012

Variant appearance in text: rs457717
PubMed Link: 22973521
Variant Present in the following documents:
  • Main text
  • IJHEP2012-958673.pdf
View BVdb publication page



A genome-wide association study for age-related hearing impairment in the Saami.

European Journal Of Human Genetics : Ejhg
Van Laer, Lut L; Huyghe, Jeroen R JR; Hannula, Samuli S; Van Eyken, Els E; Stephan, Dietrich A DA; Mäki-Torkko, Elina E; Aikio, Pekka P; Fransen, Erik E; Lysholm-Bernacchi, Alana A; Sorri, Martti M; Huentelman, Matthew J MJ; Van Camp, Guy G
Publication Date: 2010-06

Variant appearance in text: rs457717
PubMed Link: 20068591
Variant Present in the following documents:
  • Main text
View BVdb publication page