GC c.377T>G ;(p.L126R)

Variant ID: 4-72631245-A-C

NM_000583.3(GC):c.377T>G;(p.L126R)

This variant was identified in 9 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: 377T>G
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: GC: 377T>G; Leu126Arg
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



In vivo evolution of an emerging zoonotic bacterial pathogen in an immunocompromised human host.

Nature Communications
Launay, A A; Wu, C-J CJ; Dulanto Chiang, A A; Youn, J-H JH; Khil, P P PP; Dekker, J P JP
Publication Date: 2021-07-23

Variant appearance in text: GC: L126R
PubMed Link: 34301946
Variant Present in the following documents:
  • 41467_2021_24668_MOESM9_ESM.xlsx, sheet 9
  • 41467_2021_24668_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.

The Application Of Clinical Genetics
Seixas, Susana S; Marques, Patricia Isabel PI
Publication Date: 2021

Variant appearance in text: GC: Leu126Arg
PubMed Link: 33790624
Variant Present in the following documents:
  • Main text
  • tacg-14-173.pdf
View BVdb publication page



Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastoma.

Nature Communications
Bandopadhayay, Pratiti P; Piccioni, Federica F; O'Rourke, Ryan R; Ho, Patricia P; Gonzalez, Elizabeth M EM; Buchan, Graham G; Qian, Kenin K; Gionet, Gabrielle G; Girard, Emily E; Coxon, Margo M; Rees, Matthew G MG; Brenan, Lisa L; Dubois, Frank F; Shapira, Ofer O; Greenwald, Noah F NF; Pages, Melanie M; Balboni Iniguez, Amanda A; Paolella, Brenton R BR; Meng, Alice A; Sinai, Claire C; Roti, Giovanni G; Dharia, Neekesh V NV; Creech, Amanda A; Tanenbaum, Benjamin B; Khadka, Prasidda P; Tracy, Adam A; Tiv, Hong L HL; Hong, Andrew L AL; Coy, Shannon S; Rashid, Rumana R; Lin, Jia-Ren JR; Cowley, Glenn S GS; Lam, Fred C FC; Goodale, Amy A; Lee, Yenarae Y; Schoolcraft, Kathleen K; Vazquez, Francisca F; Hahn, William C WC; Tsherniak, Aviad A; Bradner, James E JE; Yaffe, Michael B MB; Milde, Till T; Pfister, Stefan M SM; Qi, Jun J; Schenone, Monica M; Carr, Steven A SA; Ligon, Keith L KL; Kieran, Mark W MW; Santagata, Sandro S; Olson, James M JM; Gokhale, Prafulla C PC; Jaffe, Jacob D JD; Root, David E DE; Stegmaier, Kimberly K; Johannessen, Cory M CM; Beroukhim, Rameen R
Publication Date: 2019-06-03

Variant appearance in text: GC: 377T>G; Leu126Arg
PubMed Link: 31160565
Variant Present in the following documents:
  • 41467_2019_10307_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Polyphyletic Nature of Salmonella enterica Serotype Derby and Lineage-Specific Host-Association Revealed by Genome-Wide Analysis.

Frontiers In Microbiology
Sévellec, Yann Y; Vignaud, Marie-Léone ML; Granier, Sophie A SA; Lailler, Renaud R; Feurer, Carole C; Le Hello, Simon S; Mistou, Michel-Yves MY; Cadel-Six, Sabrina S
Publication Date: 2018

Variant appearance in text: GC: L126R
PubMed Link: 29867804
Variant Present in the following documents:
  • Main text
  • fmicb-09-00891.pdf
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GC: Leu126Arg
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 20
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: GC: 377T>G; L126R
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Alpha-thalassaemia.

Orphanet Journal Of Rare Diseases
Harteveld, Cornelis L CL; Higgs, Douglas R DR
Publication Date: 2010-05-28

Variant appearance in text: GC: 377T>G; Leu126Arg
PubMed Link: 20507641
Variant Present in the following documents:
  • 1750-1172-5-13.pdf
View BVdb publication page