HLA-C c.*379A>G

Variant ID: 6-31236567-T-C

NM_002117.5(HLA-C):c.*379A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1049281
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One
Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D
Publication Date: 2022

Variant appearance in text: rs1049281
PubMed Link: 36155654
Variant Present in the following documents:
  • pone.0275121.s002.xlsx, sheet 14
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs1049281
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs1049281
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

Nature Communications
Justice, Anne E AE; Winkler, Thomas W TW; Feitosa, Mary F MF; Graff, Misa M; Fisher, Virginia A VA; Young, Kristin K; Barata, Llilda L; Deng, Xuan X; Czajkowski, Jacek J; Hadley, David D; Ngwa, Julius S JS; Ahluwalia, Tarunveer S TS; Chu, Audrey Y AY; Heard-Costa, Nancy L NL; Lim, Elise E; Perez, Jeremiah J; Eicher, John D JD; Kutalik, Zoltán Z; Xue, Luting L; Mahajan, Anubha A; Renström, Frida F; Wu, Joseph J; Qi, Qibin Q; Ahmad, Shafqat S; Alfred, Tamuno T; Amin, Najaf N; Bielak, Lawrence F LF; Bonnefond, Amelie A; Bragg, Jennifer J; Cadby, Gemma G; Chittani, Martina M; Coggeshall, Scott S; Corre, Tanguy T; Direk, Nese N; Eriksson, Joel J; Fischer, Krista K; Gorski, Mathias M; Neergaard Harder, Marie M; Horikoshi, Momoko M; Huang, Tao T; Huffman, Jennifer E JE; Jackson, Anne U AU; Justesen, Johanne Marie JM; Kanoni, Stavroula S; Kinnunen, Leena L; Kleber, Marcus E ME; Komulainen, Pirjo P; Kumari, Meena M; Lim, Unhee U; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Mangino, Massimo M; Manichaikul, Ani A; Marten, Jonathan J; Middelberg, Rita P S RPS; Müller-Nurasyid, Martina M; Navarro, Pau P; Pérusse, Louis L; Pervjakova, Natalia N; Sarti, Cinzia C; Smith, Albert Vernon AV; Smith, Jennifer A JA; Stančáková, Alena A; Strawbridge, Rona J RJ; Stringham, Heather M HM; Sung, Yun Ju YJ; Tanaka, Toshiko T; Teumer, Alexander A; Trompet, Stella S; van der Laan, Sander W SW; van der Most, Peter J PJ; Van Vliet-Ostaptchouk, Jana V JV; Vedantam, Sailaja L SL; Verweij, Niek N; Vink, Jacqueline M JM; Vitart, Veronique V; Wu, Ying Y; Yengo, Loic L; Zhang, Weihua W; Hua Zhao, Jing J; Zimmermann, Martina E ME; Zubair, Niha N; Abecasis, Gonçalo R GR; Adair, Linda S LS; Afaq, Saima S; Afzal, Uzma U; Bakker, Stephan J L SJL; Bartz, Traci M TM; Beilby, John J; Bergman, Richard N RN; Bergmann, Sven S; Biffar, Reiner R; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Braga, Daniele D; Buckley, Brendan M BM; Buyske, Steve S; Campbell, Harry H; Chambers, John C JC; Collins, Francis S FS; Curran, Joanne E JE; de Borst, Gert J GJ; de Craen, Anton J M AJM; de Geus, Eco J C EJC; Dedoussis, George G; Delgado, Graciela E GE; den Ruijter, Hester M HM; Eiriksdottir, Gudny G; Eriksson, Anna L AL; Esko, Tõnu T; Faul, Jessica D JD; Ford, Ian I; Forrester, Terrence T; Gertow, Karl K; Gigante, Bruna B; Glorioso, Nicola N; Gong, Jian J; Grallert, Harald H; Grammer, Tanja B TB; Grarup, Niels N; Haitjema, Saskia S; Hallmans, Göran G; Hamsten, Anders A; Hansen, Torben T; Harris, Tamara B TB; Hartman, Catharina A CA; Hassinen, Maija M; Hastie, Nicholas D ND; Heath, Andrew C AC; Hernandez, Dena D; Hindorff, Lucia L; Hocking, Lynne J LJ; Hollensted, Mette M; Holmen, Oddgeir L OL; Homuth, Georg G; Jan Hottenga, Jouke J; Huang, Jie J; Hung, Joseph J; Hutri-Kähönen, Nina N; Ingelsson, Erik E; James, Alan L AL; Jansson, John-Olov JO; Jarvelin, Marjo-Riitta MR; Jhun, Min A MA; Jørgensen, Marit E ME; Juonala, Markus M; Kähönen, Mika M; Karlsson, Magnus M; Koistinen, Heikki A HA; Kolcic, Ivana I; Kolovou, Genovefa G; Kooperberg, Charles C; Krämer, Bernhard K BK; Kuusisto, Johanna J; Kvaløy, Kirsti K; Lakka, Timo A TA; Langenberg, Claudia C; Launer, Lenore J LJ; Leander, Karin K; Lee, Nanette R NR; Lind, Lars L; Lindgren, Cecilia M CM; Linneberg, Allan A; Lobbens, Stephane S; Loh, Marie M; Lorentzon, Mattias M; Luben, Robert R; Lubke, Gitta G; Ludolph-Donislawski, Anja A; Lupoli, Sara S; Madden, Pamela A F PAF; Männikkö, Reija R; Marques-Vidal, Pedro P; Martin, Nicholas G NG; McKenzie, Colin A CA; McKnight, Barbara B; Mellström, Dan D; Menni, Cristina C; Montgomery, Grant W GW; Musk, Aw Bill AB; Narisu, Narisu N; Nauck, Matthias M; Nolte, Ilja M IM; Oldehinkel, Albertine J AJ; Olden, Matthias M; Ong, Ken K KK; Padmanabhan, Sandosh S; Peyser, Patricia A PA; Pisinger, Charlotta C; Porteous, David J DJ; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rasmussen-Torvik, Laura J LJ; Rawal, Rajesh R; Rice, Treva T; Ridker, Paul M PM; Rose, Lynda M LM; Bien, Stephanie A SA; Rudan, Igor I; Sanna, Serena S; Sarzynski, Mark A MA; Sattar, Naveed N; Savonen, Kai K; Schlessinger, David D; Scholtens, Salome S; Schurmann, Claudia C; Scott, Robert A RA; Sennblad, Bengt B; Siemelink, Marten A MA; Silbernagel, Günther G; Slagboom, P Eline PE; Snieder, Harold H; Staessen, Jan A JA; Stott, David J DJ; Swertz, Morris A MA; Swift, Amy J AJ; Taylor, Kent D KD; Tayo, Bamidele O BO; Thorand, Barbara B; Thuillier, Dorothee D; Tuomilehto, Jaakko J; Uitterlinden, Andre G AG; Vandenput, Liesbeth L; Vohl, Marie-Claude MC; Völzke, Henry H; Vonk, Judith M JM; Waeber, Gérard G; Waldenberger, Melanie M; Westendorp, R G J RGJ; Wild, Sarah S; Willemsen, Gonneke G; Wolffenbuttel, Bruce H R BHR; Wong, Andrew A; Wright, Alan F AF; Zhao, Wei W; Zillikens, M Carola MC; Baldassarre, Damiano D; Balkau, Beverley B; Bandinelli, Stefania S; Böger, Carsten A CA; Boomsma, Dorret I DI; Bouchard, Claude C; Bruinenberg, Marcel M; Chasman, Daniel I DI; Chen, Yii-DerIda YD; Chines, Peter S PS; Cooper, Richard S RS; Cucca, Francesco F; Cusi, Daniele D; Faire, Ulf de U; Ferrucci, Luigi L; Franks, Paul W PW; Froguel, Philippe P; Gordon-Larsen, Penny P; Grabe, Hans-Jörgen HJ; Gudnason, Vilmundur V; Haiman, Christopher A CA; Hayward, Caroline C; Hveem, Kristian K; Johnson, Andrew D AD; Wouter Jukema, J J; Kardia, Sharon L R SLR; Kivimaki, Mika M; Kooner, Jaspal S JS; Kuh, Diana D; Laakso, Markku M; Lehtimäki, Terho T; Marchand, Loic Le LL; März, Winfried W; McCarthy, Mark I MI; Metspalu, Andres A; Morris, Andrew P AP; Ohlsson, Claes C; Palmer, Lyle J LJ; Pasterkamp, Gerard G; Pedersen, Oluf O; Peters, Annette A; Peters, Ulrike U; Polasek, Ozren O; Psaty, Bruce M BM; Qi, Lu L; Rauramaa, Rainer R; Smith, Blair H BH; Sørensen, Thorkild I A TIA; Strauch, Konstantin K; Tiemeier, Henning H; Tremoli, Elena E; van der Harst, Pim P; Vestergaard, Henrik H; Vollenweider, Peter P; Wareham, Nicholas J NJ; Weir, David R DR; Whitfield, John B JB; Wilson, James F JF; Tyrrell, Jessica J; Frayling, Timothy M TM; Barroso, Inês I; Boehnke, Michael M; Deloukas, Panagiotis P; Fox, Caroline S CS; Hirschhorn, Joel N JN; Hunter, David J DJ; Spector, Tim D TD; Strachan, David P DP; van Duijn, Cornelia M CM; Heid, Iris M IM; Mohlke, Karen L KL; Marchini, Jonathan J; Loos, Ruth J F RJF; Kilpeläinen, Tuomas O TO; Liu, Ching-Ti CT; Borecki, Ingrid B IB; North, Kari E KE; Cupples, L Adrienne LA
Publication Date: 2017-04-26

Variant appearance in text: rs1049281
PubMed Link: 28443625
Variant Present in the following documents:
  • ncomms14977-s1.pdf
  • ncomms14977-s10.pdf
  • ncomms14977.pdf
View BVdb publication page



Methodology for single nucleotide polymorphism selection in promoter regions for clinical use. An example of its applicability.

International Journal Of Molecular Epidemiology And Genetics
Marques, Herlander H; Freitas, José J; Medeiros, Rui R; Longatto-Filho, Adhemar A
Publication Date: 2016

Variant appearance in text: rs1049281
PubMed Link: 27766139
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs1049281
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page