SYNE2 c.14737G>A ;(p.E4913K)

Variant ID: 14-64604595-G-A

NM_182914.2(SYNE2):c.14737G>A;(p.E4913K)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: SYNE2: E4913K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs12881815
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: SYNE2: 14737G>A; E4913K; rs12881815
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: SYNE2: E4913K
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes.

Scientific Reports
Jäger, Susanne S; Wahl, Simone S; Kröger, Janine J; Sharma, Sapna S; Hoffmann, Per P; Floegel, Anna A; Pischon, Tobias T; Prehn, Cornelia C; Adamski, Jerzy J; Müller-Nurasyid, Martina M; Waldenberger, Melanie M; Strauch, Konstantin K; Peters, Annette A; Gieger, Christian C; Suhre, Karsten K; Grallert, Harald H; Boeing, Heiner H; Schulze, Matthias B MB; Meidtner, Karina K
Publication Date: 2017-07-20

Variant appearance in text: SYNE2: Glu4913Lys; rs12881815
PubMed Link: 28729637
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_6158.pdf
  • 41598_2017_6158_MOESM1_ESM.pdf
View BVdb publication page



Identification of Susceptibility Genes of Adult Asthma in French Canadian Women.

Canadian Respiratory Journal
Bérubé, Jean-Christophe JC; Gaudreault, Nathalie N; Lavoie-Charland, Emilie E; Sbarra, Laura L; Henry, Cyndi C; Madore, Anne-Marie AM; Paré, Peter D PD; van den Berge, Maarten M; Nickle, David D; Laviolette, Michel M; Laprise, Catherine C; Boulet, Louis-Philippe LP; Bossé, Yohan Y
Publication Date: 2016

Variant appearance in text: rs12881815
PubMed Link: 27445529
Variant Present in the following documents:
  • Main text
  • CRJ2016-3564341.pdf
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: Nesprin-2: E4913K; rs12881815
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SYNE2: E4913K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: SYNE2: E4913K; rs12881815
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 1
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
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: SYNE2: E4913K; rs12881815
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: SYNE2: E4913K; rs12881815
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
View BVdb publication page



Genetic determinants of circulating sphingolipid concentrations in European populations.

Plos Genetics
Hicks, Andrew A AA; Pramstaller, Peter P PP; Johansson, Asa A; Vitart, Veronique V; Rudan, Igor I; Ugocsai, Peter P; Aulchenko, Yurii Y; Franklin, Christopher S CS; Liebisch, Gerhard G; Erdmann, Jeanette J; Jonasson, Inger I; Zorkoltseva, Irina V IV; Pattaro, Cristian C; Hayward, Caroline C; Isaacs, Aaron A; Hengstenberg, Christian C; Campbell, Susan S; Gnewuch, Carsten C; Janssens, A Cecilej W AC; Kirichenko, Anatoly V AV; König, Inke R IR; Marroni, Fabio F; Polasek, Ozren O; Demirkan, Ayse A; Kolcic, Ivana I; Schwienbacher, Christine C; Igl, Wilmar W; Biloglav, Zrinka Z; Witteman, Jacqueline C M JC; Pichler, Irene I; Zaboli, Ghazal G; Axenovich, Tatiana I TI; Peters, Annette A; Schreiber, Stefan S; Wichmann, H-Erich HE; Schunkert, Heribert H; Hastie, Nick N; Oostra, Ben A BA; Wild, Sarah H SH; Meitinger, Thomas T; Gyllensten, Ulf U; van Duijn, Cornelia M CM; Wilson, James F JF; Wright, Alan A; Schmitz, Gerd G; Campbell, Harry H
Publication Date: 2009-10

Variant appearance in text: rs12881815
PubMed Link: 19798445
Variant Present in the following documents:
  • Main text
  • pgen.1000672.pdf
View BVdb publication page