NCAN c.1771G>A ;(p.E591K)

Variant ID: 19-19338200-G-A

NM_004386.2(NCAN):c.1771G>A;(p.E591K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Three-dimensional genomic mapping of human pancreatic tissue reveals striking multifocality and genetic heterogeneity in precancerous lesions.

Biorxiv : The Preprint Server For Biology
Braxton, Alicia M AM; Kiemen, Ashley L AL; Grahn, Mia P MP; Forjaz, André A; Babu, Jaanvi Mahesh JM; Zheng, Lily L; Jiang, Liping L; Cheng, Haixia H; Song, Qianqian Q; Reichel, Rebecca R; Graham, Sarah S; Damanakis, Alexander I AI; Fischer, Catherine G CG; Mou, Stephanie S; Metz, Cameron C; Granger, Julie J; Liu, Xiao-Ding XD; Bachmann, Niklas N; Almagro-Pérez, Cristina C; Jiang, Ann Chenyu AC; Yoo, Jeonghyun J; Kim, Bridgette B; Du, Scott S; Foster, Eli E; Hsu, Jocelyn Y JY; Rivera, Paula Andreu PA; Chu, Linda C LC; Liu, Fengze F; Niknafs, Noushin N; Fishman, Elliot K EK; Yuille, Alan A; Roberts, Nicholas J NJ; Thompson, Elizabeth D ED; Scharpf, Robert B RB; Cornish, Toby C TC; Jiao, Yuchen Y; Karchin, Rachel R; Hruban, Ralph H RH; Wu, Pei-Hsun PH; Wirtz, Denis D; Wood, Laura D LD
Publication Date: 2023-01-28

Variant appearance in text: NCAN: 1771G>A; Glu591Lys
PubMed Link: 36747709
Variant Present in the following documents:
  • media-5.xlsx, sheet 2
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: NCAN: E591K
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: NCAN: E591K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy.

Scientific Reports
Di Costanzo, Alessia A; Belardinilli, Francesca F; Bailetti, Diego D; Sponziello, Marialuisa M; D'Erasmo, Laura L; Polimeni, Licia L; Baratta, Francesco F; Pastori, Daniele D; Ceci, Fabrizio F; Montali, Anna A; Girelli, Gabriella G; De Masi, Bruna B; Angeloni, Antonio A; Giannini, Giuseppe G; Del Ben, Maria M; Angelico, Francesco F; Arca, Marcello M
Publication Date: 2018-02-27

Variant appearance in text: NCAN: Glu591Lys
PubMed Link: 29487372
Variant Present in the following documents:
  • 41598_2018_21939_MOESM1_ESM.pdf
View BVdb publication page



Aromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers.

Nature Communications
Miller, Christopher A CA; Gindin, Yevgeniy Y; Lu, Charles C; Griffith, Obi L OL; Griffith, Malachi M; Shen, Dong D; Hoog, Jeremy J; Li, Tiandao T; Larson, David E DE; Watson, Mark M; Davies, Sherri R SR; Hunt, Kelly K; Suman, Vera J VJ; Snider, Jacqueline J; Walsh, Thomas T; Colditz, Graham A GA; DeSchryver, Katherine K; Wilson, Richard K RK; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2016-08-09

Variant appearance in text: NCAN: E591K
PubMed Link: 27502118
Variant Present in the following documents:
  • ncomms12498-s3.xls, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: NCAN: 1771G>A; E591K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Prioritizing Potentially Druggable Mutations with dGene: An Annotation Tool for Cancer Genome Sequencing Data.

Plos One
Kumar, Runjun D RD; Chang, Li-Wei LW; Ellis, Matthew J MJ; Bose, Ron R
Publication Date: 2013

Variant appearance in text: NCAN: E591K
PubMed Link: 23826350
Variant Present in the following documents:
  • pone.0067980.s003.xls, sheet 1
View BVdb publication page