GC c.187C>T ;(p.L63F)

Variant ID: 4-72634092-G-A

NM_000583.3(GC):c.187C>T;(p.L63F)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 187C>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation
Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M
Publication Date: 2023-03-16

Variant appearance in text: GC: 187C>T
PubMed Link: 36928090
Variant Present in the following documents:
  • jci-133-164413-s193.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: Leu63Phe
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

The Lancet. Oncology
Garcia-Pelaez, José J; Barbosa-Matos, Rita R; Lobo, Silvana S; Dias, Alexandre A; Garrido, Luzia L; Castedo, Sérgio S; Sousa, Sónia S; Pinheiro, Hugo H; Sousa, Liliana L; Monteiro, Rita R; Maqueda, Joaquin J JJ; Fernandes, Susana S; Carneiro, Fátima F; Pinto, Nádia N; Lemos, Carolina C; Pinto, Carla C; Teixeira, Manuel R MR; Aretz, Stefan S; Bajalica-Lagercrantz, Svetlana S; Balmaña, Judith J; Blatnik, Ana A; Benusiglio, Patrick R PR; Blanluet, Maud M; Bours, Vicent V; Brems, Hilde H; Brunet, Joan J; Calistri, Daniele D; Capellá, Gabriel G; Carrera, Sergio S; Colas, Chrystelle C; Dahan, Karin K; de Putter, Robin R; Desseignés, Camille C; Domínguez-Garrido, Elena E; Egas, Conceição C; Evans, D Gareth DG; Feret, Damien D; Fewings, Eleanor E; Fitzgerald, Rebecca C RC; Coulet, Florence F; Garcia-Barcina, María M; Genuardi, Maurizio M; Golmard, Lisa L; Hackmann, Karl K; Hanson, Helen H; Holinski-Feder, Elke E; Hüneburg, Robert R; Krajc, Mateja M; Lagerstedt-Robinson, Kristina K; Lázaro, Conxi C; Ligtenberg, Marjolijn J L MJL; Martínez-Bouzas, Cristina C; Merino, Sonia S; Michils, Geneviève G; Novaković, Srdjan S; Patiño-García, Ana A; Ranzani, Guglielmina Nadia GN; Schröck, Evelin E; Silva, Inês I; Silveira, Catarina C; Soto, José L JL; Spier, Isabel I; Steinke-Lange, Verena V; Tedaldi, Gianluca G; Tejada, María-Isabel MI; Woodward, Emma R ER; Tischkowitz, Marc M; Hoogerbrugge, Nicoline N; Oliveira, Carla C
Publication Date: 2022-11-24

Variant appearance in text: GC: 187C>T
PubMed Link: 36436516
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



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: GC: 187C>T
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data
Zhao, Ting T; Fan, Shanghua S; Sun, Liu L
Publication Date: 2021-11-17

Variant appearance in text: GC: 187C>T
PubMed Link: 34789164
Variant Present in the following documents:
  • 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: GC: 187C>T
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27

Variant appearance in text: GC: 187C>T
PubMed Link: 34580349
Variant Present in the following documents:
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 187C>T
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of Salmonella enterica Serovars Typhi and Typhimurium Reveals Typhoidal Serovar-Specific Responses to Bile.

Infection And Immunity
Johnson, Rebecca R; Ravenhall, Matt M; Pickard, Derek D; Dougan, Gordon G; Byrne, Alexander A; Frankel, Gad G
Publication Date: 2018-03

Variant appearance in text: GC: L63F
PubMed Link: 29229736
Variant Present in the following documents:
  • e00490-17.pdf
View BVdb publication page



Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Scientific Reports
Šimčíková, Daniela D; Kocková, Lucie L; Vackářová, Kateřina K; Těšínský, Miroslav M; Heneberg, Petr P
Publication Date: 2017-08-25

Variant appearance in text: GC: 187C>T
PubMed Link: 28842611
Variant Present in the following documents:
  • 41598_2017_9810_MOESM1_ESM.pdf
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: GC: Leu63Phe
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA.

European Journal Of Human Genetics : Ejhg
Bordeira-Carriço, Renata R; Ferreira, Daniel D; Mateus, Denisa D DD; Pinheiro, Hugo H; Pêgo, Ana Paula AP; Santos, Manuel A S MA; Oliveira, Carla C
Publication Date: 2014-09

Variant appearance in text: GC: 187C>T
PubMed Link: 24424122
Variant Present in the following documents:
  • Main text
View BVdb publication page



Crystal structure of the P2 C-repressor: a binder of non-palindromic direct DNA repeats.

Nucleic Acids Research
Massad, Tariq T; Skaar, Karin K; Nilsson, Hanna H; Damberg, Peter P; Henriksson-Peltola, Petri P; Haggård-Ljungquist, Elisabeth E; Högbom, Martin M; Stenmark, Pål P
Publication Date: 2010-11

Variant appearance in text: GC: Leu63Phe
PubMed Link: 20639540
Variant Present in the following documents:
  • Main text
  • gkq626.pdf
View BVdb publication page