GC c.952G>A ;(p.A318T)

Variant ID: 4-72622511-C-T

NM_000583.3(GC):c.952G>A;(p.A318T)

This variant was identified in 16 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: 952G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Publication Date: 2022-10-21

Variant appearance in text: GC: 952G>A
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation
Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2022-07-01

Variant appearance in text: GC: 952G>A; A318T
PubMed Link: 35775490
Variant Present in the following documents:
  • jci-132-151666-s195.xlsx, sheet 2
View BVdb publication page



Genomic epidemiology of Salmonella Typhi in Central Division, Fiji, 2012 to 2016.

The Lancet Regional Health. Western Pacific
Davies, Mark R MR; Duchene, Sebastian S; Valcanis, Mary M; Jenkins, Aaron P AP; Jenney, Adam A; Rosa, Varanisese V; Hayes, Andrew J AJ; Strobel, Aneley Getahun AG; McIntyre, Liam L; Lacey, Jake A JA; Klemm, Elizabeth J EJ; Wong, Vanessa K VK; Sahukhan, Aalisha A; Thomson, Helen H; Page, Andrew A; Hocking, Dianna D; Wang, Nancy N; Tudravu, Litia L; Rafai, Eric E; Dougan, Gordon G; Howden, Benjamin P BP; Crump, John A JA; Mulholland, Kim K; Strugnell, Richard A RA
Publication Date: 2022-07

Variant appearance in text: GC: 952G>A
PubMed Link: 35769175
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research
Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G
Publication Date: 2022-02-15

Variant appearance in text: GC: 952G>A
PubMed Link: 34903606
Variant Present in the following documents:
  • can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2
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: 952G>A
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Genomics of an endemic cystic fibrosis Burkholderia multivorans strain reveals low within-patient evolution but high between-patient diversity.

Plos Pathogens
Lood, Cédric C; Peeters, Charlotte C; Lamy-Besnier, Quentin Q; Wagemans, Jeroen J; De Vos, Daniel D; Proesmans, Marijke M; Pirnay, Jean-Paul JP; Echahidi, Fedoua F; Piérard, Denis D; Thimmesch, Matthieu M; Boeras, Anca A; Lagrou, Katrien K; De Canck, Evelien E; De Wachter, Elke E; van Noort, Vera V; Lavigne, Rob R; Vandamme, Peter P
Publication Date: 2021-03

Variant appearance in text: GC: 952G>A; Ala318Thr
PubMed Link: 33720991
Variant Present in the following documents:
  • ppat.1009418.s005.xlsx, sheet 9
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: GC: 952G>A
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: GC: 952G>A
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: GC: 952G>A; A318T
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
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: Ala318Thr
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Culture-independent genome sequencing of Coxiella burnetii from a native heart valve of a Tunisian patient with severe infective endocarditis.

New Microbes And New Infections
Delaloye, J J; Pillonel, T T; Smaoui, M M; Znazen, A A; Abid, L L; Greub, G G
Publication Date: 2018-01

Variant appearance in text: GC: 952G>A
PubMed Link: 29201381
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: 952G>A
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: Ala318Thr
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: GC: A318T
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 4
View BVdb publication page



Decreased mitochondrial DNA mutagenesis in human colorectal cancer.

Plos Genetics
Ericson, Nolan G NG; Kulawiec, Mariola M; Vermulst, Marc M; Sheahan, Kieran K; O'Sullivan, Jacintha J; Salk, Jesse J JJ; Bielas, Jason H JH
Publication Date: 2012

Variant appearance in text: GC: A318T
PubMed Link: 22685414
Variant Present in the following documents:
  • Main text
  • pgen.1002689.pdf
View BVdb publication page