TG c.2054C>T ;(p.P685L)

Variant ID: 8-133899671-C-T

NM_003235.4(TG):c.2054C>T;(p.P685L)

This variant was identified in 10 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: TG: 2054C>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Long-Term Efficacy and Safety of Evinacumab in Patients with Homozygous Familial Hypercholesterolemia: Real-World Clinical Experience.

Pharmaceuticals (Basel, Switzerland)
Stefanutti, Claudia C; Chan, Dick C DC; Di Giacomo, Serafina S; Morozzi, Claudia C; Watts, Gerald F GF
Publication Date: 2022-11-11

Variant appearance in text: TG: 2054C>T; P685L
PubMed Link: 36422519
Variant Present in the following documents:
  • pharmaceuticals-15-01389.pdf
View BVdb publication page



Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ
Publication Date: 2022-05-01

Variant appearance in text: TG: P685L
PubMed Link: 33994402
Variant Present in the following documents:
  • jat-29-639.pdf
View BVdb publication page



Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.

Experimental And Therapeutic Medicine
Cheng, Xinyao X; Huang, Yifang Y; Qiu, Xueping X; Cheng, Xiaohuan X; Jin, Yalei Y; Hu, Yafei Y; Yang, Bing B; Zhao, Jingbo J; Lei, Yuhua Y; Zheng, Fang F
Publication Date: 2018-08

Variant appearance in text: TG: 2054C>T
PubMed Link: 30112042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia.

Journal Of Atherosclerosis And Thrombosis
Tada, Hayato H; Nomura, Akihiro A; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Kawashiri, Masa-Aki MA
Publication Date: 2018-12-01

Variant appearance in text: TG: 2054C>T
PubMed Link: 29998912
Variant Present in the following documents:
  • Main text
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: TG: 2054C>T
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.

Practical Laboratory Medicine
Tada, Hayato H; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Hayashi, Kenshi K
Publication Date: 2015-04-01

Variant appearance in text: TG: 2054C>T
PubMed Link: 28932795
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2016-03

Variant appearance in text: TG: 2054C>T; Pro685Leu
PubMed Link: 26892515
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: TG: P685L
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: TG: P685L
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page