AKAP11 c.2705A>G ;(p.E902G)

Variant ID: 13-42875587-A-G

NM_016248.3(AKAP11):c.2705A>G;(p.E902G)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: AKAP11: 2705A>G; Glu902Gly; rs61752500
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 5
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: AKAP11: E902G; rs61752500
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: AKAP11: E902G; rs61752500
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Germline mutations in MAP3K6 are associated with familial gastric cancer.

Plos Genetics
Gaston, Daniel D; Hansford, Samantha S; Oliveira, Carla C; Nightingale, Mathew M; Pinheiro, Hugo H; Macgillivray, Christine C; Kaurah, Pardeep P; Rideout, Andrea L AL; Steele, Patricia P; Soares, Gabriela G; Huang, Weei-Yuarn WY; Whitehouse, Scott S; Blowers, Sarah S; LeBlanc, Marissa A MA; Jiang, Haiyan H; Greer, Wenda W; Samuels, Mark E ME; Orr, Andrew A; Fernandez, Conrad V CV; Majewski, Jacek J; Ludman, Mark M; Dyack, Sarah S; Penney, Lynette S LS; McMaster, Christopher R CR; Huntsman, David D; Bedard, Karen K
Publication Date: 2014-10

Variant appearance in text: AKAP11: E902G; rs61752500
PubMed Link: 25340522
Variant Present in the following documents:
  • pgen.1004669.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: AKAP11: E902G; rs61752500
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page