TG c.854T>G ;(p.L285R)

Variant ID: 8-133894822-T-G

NM_003235.4(TG):c.854T>G;(p.L285R)

This variant was identified in 6 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: 854T>G
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: TG: 854T>G
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports
Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T
Publication Date: 2020-10-14

Variant appearance in text: TG: 854T>G
PubMed Link: 33057101
Variant Present in the following documents:
  • 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: TG: 854T>G; Leu285Arg
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition.

Nature Communications
Anstee, Quentin M QM; Knapp, Susanne S; Maguire, Edward P EP; Hosie, Alastair M AM; Thomas, Philip P; Mortensen, Martin M; Bhome, Rohan R; Martinez, Alonso A; Walker, Sophie E SE; Dixon, Claire I CI; Ruparelia, Kush K; Montagnese, Sara S; Kuo, Yu-Ting YT; Herlihy, Amy A; Bell, Jimmy D JD; Robinson, Iain I; Guerrini, Irene I; McQuillin, Andrew A; Fisher, Elizabeth M C EM; Ungless, Mark A MA; Gurling, Hugh M D HM; Morgan, Marsha Y MY; Brown, Steve D M SD; Stephens, David N DN; Belelli, Delia D; Lambert, Jeremy J JJ; Smart, Trevor G TG; Thomas, Howard C HC
Publication Date: 2013

Variant appearance in text: TG: L285R
PubMed Link: 24281383
Variant Present in the following documents:
  • emss-55379.pdf
View BVdb publication page



The GAT domains of clathrin-associated GGA proteins have two ubiquitin binding motifs.

The Journal Of Biological Chemistry
Bilodeau, Patricia S PS; Winistorfer, Stanley C SC; Allaman, Margaret M MM; Surendhran, Kavitha K; Kearney, William R WR; Robertson, Andrew D AD; Piper, Robert C RC
Publication Date: 2004-12-24

Variant appearance in text: TGN: L285R
PubMed Link: 15494413
Variant Present in the following documents:
  • Main text
View BVdb publication page