AKAP13 c.1576A>C ;(p.K526Q)

Variant ID: 15-86122875-A-C

NM_007200.4(AKAP13):c.1576A>C;(p.K526Q)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: AKAP13: 1576A>C; Lys526Gln
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04

Variant appearance in text: AKAP13: Lys526Gln
PubMed Link: 35246273
Variant Present in the following documents:
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.

Journal Of Cardiovascular Development And Disease
Suryavanshi, Santosh V SV; Jadhav, Shweta M SM; McConnell, Bradley K BK
Publication Date: 2018-01-25

Variant appearance in text: AKAP13: K526Q
PubMed Link: 29370121
Variant Present in the following documents:
  • Main text
  • jcdd-05-00007.pdf
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: AKAP13: 1576A>C; Lys526Gln; rs34434221
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
  • ncomms12475-s3.xlsx, sheet 1
View BVdb publication page



Structural Mechanisms and Drug Discovery Prospects of Rho GTPases.

Cells
Smithers, Cameron C CC; Overduin, Michael M
Publication Date: 2016-06-13

Variant appearance in text: AKAP-Lbc: K526Q
PubMed Link: 27304967
Variant Present in the following documents:
  • Main text
  • cells-05-00026.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: AKAP13: K526Q; rs34434221
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs34434221
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Protein Kinase A-induced tamoxifen resistance is mediated by anchoring protein AKAP13.

Bmc Cancer
Bentin Toaldo, Cristiane C; Alexi, Xanthippi X; Beelen, Karin K; Kok, Marleen M; Hauptmann, Michael M; Jansen, Maurice M; Berns, Els E; Neefjes, Jacques J; Linn, Sabine S; Michalides, Rob R; Zwart, Wilbert W
Publication Date: 2015-08-14

Variant appearance in text: AKAP13: Lys526Gln
PubMed Link: 26272591
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1591.pdf
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: AKAP13: K526Q; rs34434221
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.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: AKAP13: K526Q; rs34434221
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



A-kinase anchoring proteins as potential drug targets.

British Journal Of Pharmacology
Tröger, Jessica J; Moutty, Marie C MC; Skroblin, Philipp P; Klussmann, Enno E
Publication Date: 2012-05

Variant appearance in text: AKAP-Lbc: Lys526Gln
PubMed Link: 22122509
Variant Present in the following documents:
  • Main text
View BVdb publication page



A-kinase anchoring proteins: from protein complexes to physiology and disease.

Iubmb Life
Carnegie, Graeme K GK; Means, Christopher K CK; Scott, John D JD
Publication Date: 2009-04

Variant appearance in text: AKAP-Lbc: Lys526Gln
PubMed Link: 19319965
Variant Present in the following documents:
  • Main text
View BVdb publication page