TG c.424G>A ;(p.D142N)

Variant ID: 8-133883742-G-A

NM_003235.4(TG):c.424G>A;(p.D142N)

This variant was identified in 28 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: 424G>A; D142N
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: TG: 424G>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Endothelial alpha globin is a nitrite reductase.

Nature Communications
Keller, T C Stevenson TCS; Lechauve, Christophe C; Keller, Alexander S AS; Broseghini-Filho, Gilson Brás GB; Butcher, Joshua T JT; Askew Page, Henry R HR; Islam, Aditi A; Tan, Zhe Yin ZY; DeLalio, Leon J LJ; Brooks, Steven S; Sharma, Poonam P; Hong, Kwangseok K; Xu, Wenhao W; Padilha, Alessandra Simão AS; Ruddiman, Claire A CA; Best, Angela K AK; Macal, Edgar E; Kim-Shapiro, Daniel B DB; Christ, George G; Yan, Zhen Z; Cortese-Krott, Miriam M MM; Ricart, Karina K; Patel, Rakesh R; Bender, Timothy P TP; Sonkusare, Swapnil K SK; Weiss, Mitchell J MJ; Ackerman, Hans H; Columbus, Linda L; Isakson, Brant E BE
Publication Date: 2022-10-27

Variant appearance in text: TG: 424G>A
PubMed Link: 36302779
Variant Present in the following documents:
  • 41467_2022_34154_MOESM3_ESM.xlsx, sheet 10
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: TG: 424G>A
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 6
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 5
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4
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: TG: 424G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Disclosing azole resistance mechanisms in resistant Candida glabrata strains encoding wild-type or gain-of-function CgPDR1 alleles through comparative genomics and transcriptomics.

G3 (Bethesda, Md.)
Salazar, Sara B SB; Pinheiro, Maria Joana F MJF; Sotti-Novais, Danielle D; Soares, Ana R AR; Lopes, Maria M MM; Ferreira, Teresa T; Rodrigues, Vitória V; Fernandes, Fábio F; Mira, Nuno P NP
Publication Date: 2022-07-06

Variant appearance in text: TG: 424G>A
PubMed Link: 35532173
Variant Present in the following documents:
  • jkac110_supplementary_material.xlsx, sheet 10
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: TG: 424G>A
PubMed Link: 34903606
Variant Present in the following documents:
  • can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2
View BVdb publication page



Permethrin resistance in Aedes aegypti: Genomic variants that confer knockdown resistance, recovery, and death.

Plos Genetics
Saavedra-Rodriguez, Karla K; Campbell, Corey L CL; Lozano, Saul S; Penilla-Navarro, Patricia P; Lopez-Solis, Alma A; Solis-Santoyo, Francisco F; Rodriguez, Americo D AD; Perera, Rushika R; Black Iv, William C WC
Publication Date: 2021-06

Variant appearance in text: TG: D142N
PubMed Link: 34138859
Variant Present in the following documents:
  • pgen.1009606.s002.xlsx, sheet 1
View BVdb publication page



Quantitative trait locus mapping combined with variant and transcriptome analyses identifies a cluster of gene candidates underlying the variation in leaf wax between upland and lowland switchgrass ecotypes.

Tag. Theoretical And Applied Genetics. Theoretische Und Angewandte Genetik
Qi, Peng P; Pendergast, Thomas H TH; Johnson, Alex A; Bahri, Bochra A BA; Choi, Soyeon S; Missaoui, Ali A; Devos, Katrien M KM
Publication Date: 2021-07

Variant appearance in text: TG: 424G>A; Asp142Asn
PubMed Link: 33760937
Variant Present in the following documents:
  • 122_2021_3798_MOESM22_ESM.xlsx, sheet 2
View BVdb publication page



Implementing genomic screening in diverse populations.

Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Braganza, Giovanna T GT; Rodriguez, Jessica E JE; Zeid, Natasha N; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Merkelson, Amanda A; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2021-02-05

Variant appearance in text: TG: 424G>A
PubMed Link: 33546753
Variant Present in the following documents:
  • 13073_2021_832_MOESM1_ESM.pdf
View BVdb publication page



The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology
Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A
Publication Date: 2021-02-05

Variant appearance in text: TG: 424G>A
PubMed Link: 33546694
Variant Present in the following documents:
  • 12915_2021_962_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genomic and transcriptomic analysis reveals unique characteristics of hepatic metastases and pro-metastatic role of complement C1q in pancreatic ductal adenocarcinoma.

Genome Biology
Yang, Jianyu J; Lin, Ping P; Yang, Minwei M; Liu, Wei W; Fu, Xueliang X; Liu, Dejun D; Tao, Lingye L; Huo, Yanmiao Y; Zhang, Junfeng J; Hua, Rong R; Zhang, Zhigang Z; Li, Yixue Y; Wang, Liwei L; Xue, Jing J; Li, Hong H; Sun, Yongwei Y
Publication Date: 2021-01-04

Variant appearance in text: TG: 424G>A
PubMed Link: 33397441
Variant Present in the following documents:
  • 13059_2020_2222_MOESM2_ESM.xlsx, sheet 1
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: TG: 424G>A
PubMed Link: 33380328
Variant Present in the following documents:
  • 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18

Variant appearance in text: TG: 424G>A
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 6
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: 424G>A
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: TG: 424G>A
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications
George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK
Publication Date: 2018-03-13

Variant appearance in text: TG: 424G>A; D142N
PubMed Link: 29535388
Variant Present in the following documents:
  • 41467_2018_3099_MOESM8_ESM.xlsx, sheet 1
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: 424G>A
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Resistance to checkpoint blockade therapy through inactivation of antigen presentation.

Nature Communications
Sade-Feldman, Moshe M; Jiao, Yunxin J YJ; Chen, Jonathan H JH; Rooney, Michael S MS; Barzily-Rokni, Michal M; Eliane, Jean-Pierre JP; Bjorgaard, Stacey L SL; Hammond, Marc R MR; Vitzthum, Hans H; Blackmon, Shauna M SM; Frederick, Dennie T DT; Hazar-Rethinam, Mehlika M; Nadres, Brandon A BA; Van Seventer, Emily E EE; Shukla, Sachet A SA; Yizhak, Keren K; Ray, John P JP; Rosebrock, Daniel D; Livitz, Dimitri D; Adalsteinsson, Viktor V; Getz, Gad G; Duncan, Lyn M LM; Li, Bo B; Corcoran, Ryan B RB; Lawrence, Donald P DP; Stemmer-Rachamimov, Anat A; Boland, Genevieve M GM; Landau, Dan A DA; Flaherty, Keith T KT; Sullivan, Ryan J RJ; Hacohen, Nir N
Publication Date: 2017-10-26

Variant appearance in text: TG: 424G>A
PubMed Link: 29070816
Variant Present in the following documents:
  • 41467_2017_1062_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Transglycosylation by a chitinase from Enterobacter cloacae subsp. cloacae generates longer chitin oligosaccharides.

Scientific Reports
Mallakuntla, Mohan Krishna MK; Vaikuntapu, Papa Rao PR; Bhuvanachandra, Bhoopal B; Das, Subha Narayan SN; Podile, Appa Rao AR
Publication Date: 2017-07-11

Variant appearance in text: TG: D142N
PubMed Link: 28698589
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_5140.pdf
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: TG: 424G>A
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: TG: D142N
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: D142N
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, 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: TG: D142N
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-6.xlsx, sheet 1
View BVdb publication page



Transglycosylation by chitinase D from Serratia proteamaculans improved through altered substrate interactions.

The Journal Of Biological Chemistry
Madhuprakash, Jogi J; Tanneeru, Karunakar K; Purushotham, Pallinti P; Guruprasad, Lalitha L; Podile, Appa Rao AR
Publication Date: 2012-12-28

Variant appearance in text: TG: D142N
PubMed Link: 23115231
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanoma genome sequencing reveals frequent PREX2 mutations.

Nature
Berger, Michael F MF; Hodis, Eran E; Heffernan, Timothy P TP; Deribe, Yonathan Lissanu YL; Lawrence, Michael S MS; Protopopov, Alexei A; Ivanova, Elena E; Watson, Ian R IR; Nickerson, Elizabeth E; Ghosh, Papia P; Zhang, Hailei H; Zeid, Rhamy R; Ren, Xiaojia X; Cibulskis, Kristian K; Sivachenko, Andrey Y AY; Wagle, Nikhil N; Sucker, Antje A; Sougnez, Carrie C; Onofrio, Robert R; Ambrogio, Lauren L; Auclair, Daniel D; Fennell, Timothy T; Carter, Scott L SL; Drier, Yotam Y; Stojanov, Petar P; Singer, Meredith A MA; Voet, Douglas D; Jing, Rui R; Saksena, Gordon G; Barretina, Jordi J; Ramos, Alex H AH; Pugh, Trevor J TJ; Stransky, Nicolas N; Parkin, Melissa M; Winckler, Wendy W; Mahan, Scott S; Ardlie, Kristin K; Baldwin, Jennifer J; Wargo, Jennifer J; Schadendorf, Dirk D; Meyerson, Matthew M; Gabriel, Stacey B SB; Golub, Todd R TR; Wagner, Stephan N SN; Lander, Eric S ES; Getz, Gad G; Chin, Lynda L; Garraway, Levi A LA
Publication Date: 2012-05-09

Variant appearance in text: TG: D142N
PubMed Link: 22622578
Variant Present in the following documents:
  • NIHMS362881-supplement-3.xlsx, sheet 5
View BVdb publication page



Rsd family proteins make simultaneous interactions with regions 2 and 4 of the primary sigma factor.

Molecular Microbiology
Yuan, Andy H AH; Gregory, Brian D BD; Sharp, Josh S JS; McCleary, Katherine D KD; Dove, Simon L SL; Hochschild, Ann A
Publication Date: 2008-12

Variant appearance in text: TG: D142N
PubMed Link: 18826409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Processing and trafficking of a prohormone convertase 2 active site mutant.

Biochemical And Biophysical Research Communications
Lee, Sang-Nam SN; Kacprzak, Magdalena M MM; Day, Robert R; Lindberg, Iris I
Publication Date: 2007-04-13

Variant appearance in text: TGN: D142N
PubMed Link: 17320043
Variant Present in the following documents:
  • Main text
View BVdb publication page