PSEN1 c.769G>A ;(p.D257N)

Variant ID: 14-73659572-G-A

NM_000021.3(PSEN1):c.769G>A;(p.D257N)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: PSEN1: 769G>A; D257N
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Weerts, Marjolein J A MJA; Lanko, Kristina K; Guzmán-Vega, Francisco J FJ; Jackson, Adam A; Ramakrishnan, Reshmi R; Cardona-Londoño, Kelly J KJ; Peña-Guerra, Karla A KA; van Bever, Yolande Y; van Paassen, Barbara W BW; Kievit, Anneke A; van Slegtenhorst, Marjon M; Allen, Nicholas M NM; Kehoe, Caroline M CM; Robinson, Hannah K HK; Pang, Lewis L; Banu, Selina H SH; Zaman, Mashaya M; Efthymiou, Stephanie S; Houlden, Henry H; Järvelä, Irma I; Lauronen, Leena L; Määttä, Tuomo T; Schrauwen, Isabelle I; Leal, Suzanne M SM; Ruivenkamp, Claudia A L CAL; Barge-Schaapveld, Daniela Q C M DQCM; Peeters-Scholte, Cacha M P C D CMPCD; Galehdari, Hamid H; Mazaheri, Neda N; Sisodiya, Sanjay M SM; Harrison, Victoria V; Sun, Angela A; Thies, Jenny J; Pedroza, Luis Alberto LA; Lara-Taranchenko, Yana Y; Chinn, Ivan K IK; Lupski, James R JR; Garza-Flores, Alexandra A; McGlothlin, Jeffery J; Yang, Lin L; Huang, Shaoping S; Wang, Xiaodong X; Jewett, Tamison T; Rosso, Gretchen G; Lin, Xi X; Mohammed, Shehla S; Merritt, J Lawrence JL; Mirzaa, Ghayda M GM; Timms, Andrew E AE; Scheck, Joshua J; Elting, Mariet W MW; Polstra, Abeltje M AM; Schenck, Lauren L; Ruzhnikov, Maura R Z MRZ; Vetro, Annalisa A; Montomoli, Martino M; Guerrini, Renzo R; Koboldt, Daniel C DC; Mosher, Theresa Mihalic TM; Pastore, Matthew T MT; McBride, Kim L KL; Peng, Jing J; Pan, Zou Z; Willemsen, Marjolein M; Koning, Susanne S; Turnpenny, Peter D PD; de Vries, Bert B A BBA; Gilissen, Christian C; Pfundt, Rolph R; Lees, Melissa M; Braddock, Stephen R SR; Klemp, Kara C KC; Vansenne, Fleur F; van Gijn, Marielle E ME; Quindipan, Catherine C; Deardorff, Matthew A MA; Hamm, J Austin JA; Putnam, Abbey M AM; Baud, Rebecca R; Walsh, Laurence L; Lynch, Sally A SA; Baptista, Julia J; Person, Richard E RE; Monaghan, Kristin G KG; Crunk, Amy A; Keller-Ramey, Jennifer J; Reich, Adi A; Elloumi, Houda Zghal HZ; Alders, Marielle M; Kerkhof, Jennifer J; McConkey, Haley H; Haghshenas, Sadegheh S; , ; Maroofian, Reza R; Sadikovic, Bekim B; Banka, Siddharth S; Arold, Stefan T ST; Barakat, Tahsin Stefan TS
Publication Date: 2021-11

Variant appearance in text: PS1: 769G>A
PubMed Link: 34345025
Variant Present in the following documents:
  • 41436_2021_1246_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: PSEN1: D257N
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget
Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI
Publication Date: 2017-10-10

Variant appearance in text: PSEN1: D257N
PubMed Link: 29137240
Variant Present in the following documents:
  • Main text
  • oncotarget-08-82006-s001.pdf
  • oncotarget-08-82006.pdf
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: PSEN1: 769G>A; D257N
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: PSEN1: D257N
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PSEN1: D257N
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



PS1 N- and C-terminal fragments form a complex that functions in APP processing and Notch signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Levitan, D D; Lee, J J; Song, L L; Manning, R R; Wong, G G; Parker, E E; Zhang, L L
Publication Date: 2001-10-09

Variant appearance in text: PS1: D257N
PubMed Link: 11593035
Variant Present in the following documents:
  • Main text
View BVdb publication page