TG c.454C>T ;(p.R152C)

Variant ID: 8-133883772-C-T

NM_003235.4(TG):c.454C>T;(p.R152C)

This variant was identified in 26 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: 454C>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.

Molecular Therapy. Nucleic Acids
Jang, Gayoung G; Shin, Ha Rim HR; Do, Hyo-Sang HS; Kweon, Jiyeon J; Hwang, Soojin S; Kim, Soyoung S; Heo, Sun Hee SH; Kim, Yongsub Y; Lee, Beom Hee BH
Publication Date: 2023-03-14

Variant appearance in text: TG: 454C>T
PubMed Link: 36910714
Variant Present in the following documents:
  • mmc2.pdf
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: 454C>T
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Spatially restricted drivers and transitional cell populations cooperate with the microenvironment in untreated and chemo-resistant pancreatic cancer.

Nature Genetics
Cui Zhou, Daniel D; Jayasinghe, Reyka G RG; Chen, Siqi S; Herndon, John M JM; Iglesia, Michael D MD; Navale, Pooja P; Wendl, Michael C MC; Caravan, Wagma W; Sato, Kazuhito K; Storrs, Erik E; Mo, Chia-Kuei CK; Liu, Jingxian J; Southard-Smith, Austin N AN; Wu, Yige Y; Naser Al Deen, Nataly N; Baer, John M JM; Fulton, Robert S RS; Wyczalkowski, Matthew A MA; Liu, Ruiyang R; Fronick, Catrina C CC; Fulton, Lucinda A LA; Shinkle, Andrew A; Thammavong, Lisa L; Zhu, Houxiang H; Sun, Hua H; Wang, Liang-Bo LB; Li, Yize Y; Zuo, Chong C; McMichael, Joshua F JF; Davies, Sherri R SR; Appelbaum, Elizabeth L EL; Robbins, Keenan J KJ; Chasnoff, Sara E SE; Yang, Xiaolu X; Reeb, Ashley N AN; Oh, Clara C; Serasanambati, Mamatha M; Lal, Preet P; Varghese, Rajees R; Mashl, Jay R JR; Ponce, Jennifer J; Terekhanova, Nadezhda V NV; Yao, Lijun L; Wang, Fang F; Chen, Lijun L; Schnaubelt, Michael M; Lu, Rita Jui-Hsien RJ; Schwarz, Julie K JK; Puram, Sidharth V SV; Kim, Albert H AH; Song, Sheng-Kwei SK; Shoghi, Kooresh I KI; Lau, Ken S KS; Ju, Tao T; Chen, Ken K; Chatterjee, Deyali D; Hawkins, William G WG; Zhang, Hui H; Achilefu, Samuel S; Chheda, Milan G MG; Oh, Stephen T ST; Gillanders, William E WE; Chen, Feng F; DeNardo, David G DG; Fields, Ryan C RC; Ding, Li L
Publication Date: 2022-09

Variant appearance in text: TG: Arg152Cys
PubMed Link: 35995947
Variant Present in the following documents:
  • 41588_2022_1157_MOESM4_ESM.xlsx, sheet 2
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: 454C>T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TG: 454C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation
Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ
Publication Date: 2022-05-16

Variant appearance in text: TG: 454C>T
PubMed Link: 35358092
Variant Present in the following documents:
  • jci-132-155858-s188.xlsx, sheet 1
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: TG: 454C>T
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia.

Frontiers In Genetics
Lin, Haihua H; Fang, Youhong Y; Han, Lin L; Chen, Jie J; Lou, Jingan J; Yu, Jindan J
Publication Date: 2021

Variant appearance in text: TG: 454C>T
PubMed Link: 34484308
Variant Present in the following documents:
  • Main text
  • fgene-12-726116.pdf
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: R152C
PubMed Link: 34138859
Variant Present in the following documents:
  • pgen.1009606.s001.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: TG: 454C>T
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: TG: R152C
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
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: 454C>T
PubMed Link: 33546694
Variant Present in the following documents:
  • 12915_2021_962_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature Communications
Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE
Publication Date: 2020-10-01

Variant appearance in text: TG: 454C>T
PubMed Link: 33004838
Variant Present in the following documents:
  • 41467_2020_18723_MOESM8_ESM.xlsx, sheet 1
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: 454C>T
PubMed Link: 29998912
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology
Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,
Publication Date: 2019-03

Variant appearance in text: TG: 454C>T; Arg152Ter
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp005.pdf
View BVdb publication page



Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.

Frontiers In Oncology
Ayres-Silva, Jackline P JP; Bonamino, Martin H MH; Gouveia, Maria E ME; Monte-Mor, Barbara C R BCR; Coutinho, Diego F DF; Daumas, Adelmo H AH; Solza, Cristiana C; Braggio, Esteban E; Zalcberg, Ilana Renault IR
Publication Date: 2018

Variant appearance in text: TG: Arg152Cys
PubMed Link: 29515972
Variant Present in the following documents:
  • table_1.xlsx, sheet 1
View BVdb publication page



Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Leukemia
Karube, K K; Enjuanes, A A; Dlouhy, I I; Jares, P P; Martin-Garcia, D D; Nadeu, F F; Ordóñez, G R GR; Rovira, J J; Clot, G G; Royo, C C; Navarro, A A; Gonzalez-Farre, B B; Vaghefi, A A; Castellano, G G; Rubio-Perez, C C; Tamborero, D D; Briones, J J; Salar, A A; Sancho, J M JM; Mercadal, S S; Gonzalez-Barca, E E; Escoda, L L; Miyoshi, H H; Ohshima, K K; Miyawaki, K K; Kato, K K; Akashi, K K; Mozos, A A; Colomo, L L; Alcoceba, M M; Valera, A A; Carrió, A A; Costa, D D; Lopez-Bigas, N N; Schmitz, R R; Staudt, L M LM; Salaverria, I I; López-Guillermo, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: TG: 454C>T; R152*
PubMed Link: 28804123
Variant Present in the following documents:
  • leu2017251x2.xlsx, sheet 3
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: TG: Arg152Cys
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: TG: 454C>T; Arg152Trp
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: TG: 454C>T; R152C
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Profiling of Thyroid Cancer Reveals a Role for Thyroglobulin in Metastasis.

American Journal Of Human Genetics
Siraj, Abdul K AK; Masoodi, Tariq T; Bu, Rong R; Beg, Shaham S; Al-Sobhi, Saif S SS; Al-Dayel, Fouad F; Al-Dawish, Mohammed M; Alkuraya, Fowzan S FS; Al-Kuraya, Khawla S KS
Publication Date: 2016-06-02

Variant appearance in text: TG: 454C>T
PubMed Link: 27236916
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: TG: R152C
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Bmc Genomics
Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss Solís, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN
Publication Date: 2015-11-07

Variant appearance in text: TG: 454C>T; R152C
PubMed Link: 26547235
Variant Present in the following documents:
  • 12864_2015_1973_MOESM3_ESM.xls, sheet 3
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: R152C
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: R152C
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page