GC c.48T>G ;(p.A16=)

Variant ID: 4-72649688-A-C

NM_000583.3(GC):c.48T>G;(p.A16=)

This variant was identified in 22 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: 48T>G
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.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: Ala16Ala
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GC: A16=
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: GC: 48T>G
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
View BVdb publication page



LncRNA MALAT1 promotes gastric cancer progression via inhibiting autophagic flux and inducing fibroblast activation.

Cell Death & Disease
Wang, Zhenqiang Z; Wang, Xinjing X; Zhang, Tianqi T; Su, Liping L; Liu, Bingya B; Zhu, Zhenggang Z; Li, Chen C
Publication Date: 2021-04-06

Variant appearance in text: GC: A16A
PubMed Link: 33824303
Variant Present in the following documents:
  • Main text
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: Ala16Ala
PubMed Link: 33720991
Variant Present in the following documents:
  • ppat.1009418.s005.xlsx, sheet 9
View BVdb publication page



Modulation of the dynamics of cerebellar Purkinje cells through the interaction of excitatory and inhibitory feedforward pathways.

Plos Computational Biology
Tang, Yuanhong Y; An, Lingling L; Yuan, Ye Y; Pei, Qingqi Q; Wang, Quan Q; Liu, Jian K JK
Publication Date: 2021-02

Variant appearance in text: GC: A16A
PubMed Link: 33566820
Variant Present in the following documents:
  • Main text
View BVdb publication page



CRISPR/Cas9 directed to the Ube3a antisense transcript improves Angelman syndrome phenotype in mice.

The Journal Of Clinical Investigation
Schmid, Ralf S RS; Deng, Xuefeng X; Panikker, Priyalakshmi P; Msackyi, Msema M; Breton, Camilo C; Wilson, James M JM
Publication Date: 2021-03-01

Variant appearance in text: GC: A16A
PubMed Link: 33411694
Variant Present in the following documents:
  • Main text
View BVdb publication page



Antischistosomal, antionchocercal and antitrypanosomal potentials of some Ghanaian traditional medicines and their constituents.

Plos Neglected Tropical Diseases
Twumasi, Emmanuella Bema EB; Akazue, Pearl Ihuoma PI; Kyeremeh, Kwaku K; Gwira, Theresa Manful TM; Keiser, Jennifer J; Cho-Ngwa, Fidelis F; Flint, Adrian A; Anibea, Barbara B; Bonsu, Emmanuel Yeboah EY; Amewu, Richard K RK; Amoah, Linda Eva LE; Appiah-Opong, Regina R; Osei-Safo, Dorcas D
Publication Date: 2020-12

Variant appearance in text: GC: A16A
PubMed Link: 33382717
Variant Present in the following documents:
  • Main text
View BVdb publication page



Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants.

Journal Of Translational Medicine
Massacci, Alice A; Sperandio, Eleonora E; D'Ambrosio, Lorenzo L; Maffei, Mariano M; Palombo, Fabio F; Aurisicchio, Luigi L; Ciliberto, Gennaro G; Pallocca, Matteo M
Publication Date: 2020-12-30

Variant appearance in text: GC: 48T>G
PubMed Link: 33380328
Variant Present in the following documents:
  • 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



m5C RNA Methylation Primarily Affects the ErbB and PI3K-Akt Signaling Pathways in Gastrointestinal Cancer.

Frontiers In Molecular Biosciences
Xiang, Shixin S; Ma, Yongshun Y; Shen, Jing J; Zhao, Yueshui Y; Wu, Xu X; Li, Mingxing M; Yang, Xiao X; Kaboli, Parham Jabbarzadeh PJ; Du, Fukuan F; Ji, Huijiao H; Zheng, Yuan Y; Li, Xiang X; Li, Jing J; Wen, Qinglian Q; Xiao, Zhangang Z
Publication Date: 2020

Variant appearance in text: GC: A16A
PubMed Link: 33365328
Variant Present in the following documents:
  • Main text
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: GC: A16A
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
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: GC: Ala16Ala
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



A nutrient-limited screen unmasks rifabutin hyperactivity for extensively drug-resistant Acinetobacter baumannii.

Nature Microbiology
Luna, Brian B; Trebosc, Vincent V; Lee, Bosul B; Bakowski, Malina M; Ulhaq, Amber A; Yan, Jun J; Lu, Peggy P; Cheng, Jiaqi J; Nielsen, Travis T; Lim, Juhyeon J; Ketphan, Warisa W; Eoh, Hyungjin H; McNamara, Case C; Skandalis, Nicholas N; She, Rosemary R; Kemmer, Christian C; Lociuro, Sergio S; Dale, Glenn E GE; Spellberg, Brad B
Publication Date: 2020-09

Variant appearance in text: GC: 48T>G
PubMed Link: 32514072
Variant Present in the following documents:
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 21
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 14
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 20
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 15
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 22
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 7
View BVdb publication page



Adaptive laboratory evolution of Corynebacterium glutamicum towards higher growth rates on glucose minimal medium.

Scientific Reports
Pfeifer, Eugen E; Gätgens, Cornelia C; Polen, Tino T; Frunzke, Julia J
Publication Date: 2017-12-01

Variant appearance in text: GC: A16A
PubMed Link: 29196644
Variant Present in the following documents:
  • 41598_2017_17014_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: GC: Ala16Ala
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GC: 48T>G
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
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: GC: A16A
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: GC: A16A
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Plos One
Egan, Jan B JB; Barrett, Michael T MT; Champion, Mia D MD; Middha, Sumit S; Lenkiewicz, Elizabeth E; Evers, Lisa L; Francis, Princy P; Schmidt, Jessica J; Shi, Chang-Xin CX; Van Wier, Scott S; Badar, Sandra S; Ahmann, Gregory G; Kortuem, K Martin KM; Boczek, Nicole J NJ; Fonseca, Rafael R; Craig, David W DW; Carpten, John D JD; Borad, Mitesh J MJ; Stewart, A Keith AK
Publication Date: 2014

Variant appearance in text: GC: A16A
PubMed Link: 24505276
Variant Present in the following documents:
  • pone.0087113.s004.xls, sheet 1
View BVdb publication page



Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ
Publication Date: 2013-05

Variant appearance in text: GC: A16A
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-6.xlsx, sheet 1
View BVdb publication page



Boolean modeling of transcriptome data reveals novel modes of heterotrimeric G-protein action.

Molecular Systems Biology
Pandey, Sona S; Wang, Rui-Sheng RS; Wilson, Liza L; Li, Song S; Zhao, Zhixin Z; Gookin, Timothy E TE; Assmann, Sarah M SM; Albert, Réka R
Publication Date: 2010-06-08

Variant appearance in text: GC: A16=
PubMed Link: 20531402
Variant Present in the following documents:
  • msb201028-s1.pdf
View BVdb publication page