SPPL2C c.1928C>G ;(p.P643R)

Variant ID: 17-43924200-C-G

NM_175882.2(SPPL2C):c.1928C>G;(p.P643R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.

Nature Communications
Young, William J WJ; Haessler, Jeffrey J; Benjamins, Jan-Walter JW; Repetto, Linda L; Yao, Jie J; Isaacs, Aaron A; Harper, Andrew R AR; Ramirez, Julia J; Garnier, Sophie S; van Duijvenboden, Stefan S; Baldassari, Antoine R AR; Concas, Maria Pina MP; Duong, ThuyVy T; Foco, Luisa L; Isaksen, Jonas L JL; Mei, Hao H; Noordam, Raymond R; Nursyifa, Casia C; Richmond, Anne A; Santolalla, Meddly L ML; Sitlani, Colleen M CM; Soroush, Negin N; Thériault, Sébastien S; Trompet, Stella S; Aeschbacher, Stefanie S; Ahmadizar, Fariba F; Alonso, Alvaro A; Brody, Jennifer A JA; Campbell, Archie A; Correa, Adolfo A; Darbar, Dawood D; De Luca, Antonio A; Deleuze, Jean-François JF; Ellervik, Christina C; Fuchsberger, Christian C; Goel, Anuj A; Grace, Christopher C; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Jackson, Rebecca D RD; Kors, Jan A JA; Lima-Costa, Maria Fernanda MF; Linneberg, Allan A; Macfarlane, Peter W PW; Morrison, Alanna C AC; Navarro, Pau P; Porteous, David J DJ; Pramstaller, Peter P PP; Reiner, Alexander P AP; Risch, Lorenz L; Schotten, Ulrich U; Shen, Xia X; Sinagra, Gianfranco G; Soliman, Elsayed Z EZ; Stoll, Monika M; Tarazona-Santos, Eduardo E; Tinker, Andrew A; Trajanoska, Katerina K; Villard, Eric E; Warren, Helen R HR; Whitsel, Eric A EA; Wiggins, Kerri L KL; Arking, Dan E DE; Avery, Christy L CL; Conen, David D; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jukema, J Wouter JW; Mook-Kanamori, Dennis O DO; Olesen, Morten Salling MS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Pattaro, Cristian C; Ribeiro, Antonio Luiz P ALP; Rotter, Jerome I JI; Stricker, Bruno H BH; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James G JG; Orini, Michele M; Charron, Philippe P; Watkins, Hugh H; Kooperberg, Charles C; Lin, Henry J HJ; Wilson, James F JF; Kanters, Jørgen K JK; Sotoodehnia, Nona N; Mifsud, Borbala B; Lambiase, Pier D PD; Tereshchenko, Larisa G LG; Munroe, Patricia B PB
Publication Date: 2023-03-14

Variant appearance in text: SPPL2C: 1928C>G; Pro643Arg; rs12373142
PubMed Link: 36918541
Variant Present in the following documents:
  • 41467_2023_36997_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: SPPL2C: P643R; rs12373142
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: SPPL2C: P643R; rs12373142
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
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: SPPL2C: 1928C>G; P643R; rs12373142
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: IMP5: 1928C>G
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease.

Parkinsonism & Related Disorders
Soto-Beasley, Alexandra I AI; Walton, Ronald L RL; Valentino, Rebecca R RR; Hook, Paul W PW; Labbé, Catherine C; Heckman, Michael G MG; Johnson, Patrick W PW; Goff, Loyal A LA; Uitti, Ryan J RJ; McLean, Pamela J PJ; Springer, Wolfdieter W; McCallion, Andrew S AS; Wszolek, Zbigniew K ZK; Ross, Owen A OA
Publication Date: 2020-09

Variant appearance in text: SPPL2C: P643R; rs12373142
PubMed Link: 32829096
Variant Present in the following documents:
  • Main text
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: SPPL2C: P643R
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One
Kim, Stuart K SK
Publication Date: 2018

Variant appearance in text: SPPL2C: P643R; rs12373142
PubMed Link: 30048462
Variant Present in the following documents:
  • pone.0200785.s003.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: SPPL2C: P643R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: IMP5: P643R
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.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: SPPL2C: P643R; rs12373142
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page