GC c.236C>T ;(p.A79V)

Variant ID: 4-72634043-G-A

NM_000583.3(GC):c.236C>T;(p.A79V)

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: 236C>T; A79V
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation
Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M
Publication Date: 2023-03-16

Variant appearance in text: GC: 236C>T; Ala79Val
PubMed Link: 36928090
Variant Present in the following documents:
  • jci-133-164413-s193.xlsx, sheet 1
View BVdb publication page



Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer's disease neurons.

Frontiers In Neuroscience
Haukedal, Henriette H; Corsi, Giulia I GI; Gadekar, Veerendra P VP; Doncheva, Nadezhda T NT; Kedia, Shekhar S; de Haan, Noortje N; Chandrasekaran, Abinaya A; Jensen, Pia P; Schiønning, Pernille P; Vallin, Sarah S; Marlet, Frederik Ravnkilde FR; Poon, Anna A; Pires, Carlota C; Agha, Fawzi Khoder FK; Wandall, Hans H HH; Cirera, Susanna S; Simonsen, Anja Hviid AH; Nielsen, Troels Tolstrup TT; Nielsen, Jørgen Erik JE; Hyttel, Poul P; Muddashetty, Ravi R; Aldana, Blanca I BI; Gorodkin, Jan J; Nair, Deepak D; Meyer, Morten M; Larsen, Martin Røssel MR; Freude, Kristine K
Publication Date: 2023

Variant appearance in text: GC: A79V
PubMed Link: 36875643
Variant Present in the following documents:
  • Main text
  • fnins-17-1120086.pdf
  • Data_Sheet_1.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: GC: 236C>T; Ala79Val
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Neurodegeneration Risk Factor, EIF2AK3 (PERK), Influences Tau Protein Aggregation.

The Journal Of Biological Chemistry
Park, Goonho G; Xu, Ke K; Chea, Leon L; Kim, Kyle K; Safarta, Lance L; Song, Keon-Hyoung KH; Wu, Jian J; Park, Soyoung S; Min, Hyejung H; Hiramatsu, Nobuhiko N; Han, Jaeseok J; Lin, Jonathan H JH
Publication Date: 2022-12-20

Variant appearance in text: GC: 236C>T
PubMed Link: 36563857
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
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: 236C>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



Function of BCLAF1 in human disease.

Oncology Letters
Yu, Zongdong Z; Zhu, Jie J; Wang, Haibiao H; Li, Hong H; Jin, Xiaofeng X
Publication Date: 2022-02

Variant appearance in text: GC: A79V
PubMed Link: 34992690
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response.

Nature Communications
Yen, Yu-Ting YT; Chien, May M; Wu, Pei-Yi PY; Ho, Chi-Chang CC; Ho, Chun-Te CT; Huang, Kevin Chih-Yang KC; Chiang, Shu-Fen SF; Chao, K S Clifford KSC; Chen, William Tzu-Liang WT; Hung, Shih-Chieh SC
Publication Date: 2021-12-15

Variant appearance in text: GC: 236C>T; Ala79Val
PubMed Link: 34911954
Variant Present in the following documents:
  • 41467_2021_27620_MOESM6_ESM.xlsx, sheet 17
View BVdb publication page



Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response.

Nature Communications
Yen, Yu-Ting YT; Chien, May M; Wu, Pei-Yi PY; Ho, Chi-Chang CC; Ho, Chun-Te CT; Huang, Kevin Chih-Yang KC; Chiang, Shu-Fen SF; Chao, K S Clifford KSC; Chen, William Tzu-Liang WT; Hung, Shih-Chieh SC
Publication Date: 2021-12-15

Variant appearance in text: GC: 236C>T; Ala79Val
PubMed Link: 34911954
Variant Present in the following documents:
  • 41467_2021_27620_MOESM6_ESM.xlsx, sheet 17
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: GC: 236C>T
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.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: 236C>T
PubMed Link: 33720991
Variant Present in the following documents:
  • ppat.1009418.s005.xlsx, sheet 9
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: A79V
PubMed Link: 33380328
Variant Present in the following documents:
  • 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1
  • 12967_2020_2675_MOESM1_ESM.xlsx, sheet 2
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: GC: 236C>T; Ala79Val
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_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: 236C>T; Ala79Val
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



In vitro Models of Neurodegenerative Diseases.

Frontiers In Cell And Developmental Biology
Slanzi, Anna A; Iannoto, Giulia G; Rossi, Barbara B; Zenaro, Elena E; Constantin, Gabriela G
Publication Date: 2020

Variant appearance in text: GC: A79V
PubMed Link: 32528949
Variant Present in the following documents:
  • fcell-08-00328.pdf
View BVdb publication page



Acquired resistance to combined BET and CDK4/6 inhibition in triple-negative breast cancer.

Nature Communications
Ge, Jennifer Y JY; Shu, Shaokun S; Kwon, Mijung M; Jovanović, Bojana B; Murphy, Katherine K; Gulvady, Anushree A; Fassl, Anne A; Trinh, Anne A; Kuang, Yanan Y; Heavey, Grace A GA; Luoma, Adrienne A; Paweletz, Cloud C; Thorner, Aaron R AR; Wucherpfennig, Kai W KW; Qi, Jun J; Brown, Myles M; Sicinski, Piotr P; McDonald, Thomas O TO; Pellman, David D; Michor, Franziska F; Polyak, Kornelia K
Publication Date: 2020-05-11

Variant appearance in text: GC: 236C>T
PubMed Link: 32393766
Variant Present in the following documents:
  • 41467_2020_16170_MOESM3_ESM.xlsx, sheet 1
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: 236C>T
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: 236C>T
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: A79V
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: GC: A79V
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
Futema, Marta M; Plagnol, Vincent V; Li, KaWah K; Whittall, Ros A RA; Neil, H Andrew W HA; Seed, Mary M; , ; Bertolini, Stefano S; Calandra, Sebastiano S; Descamps, Olivier S OS; Graham, Colin A CA; Hegele, Robert A RA; Karpe, Fredrik F; Durst, Ronen R; Leitersdorf, Eran E; Lench, Nicholas N; Nair, Devaki R DR; Soran, Handrean H; Van Bockxmeer, Frank M FM; , ; Humphries, Steve E SE
Publication Date: 2014-08

Variant appearance in text: GC: 236C>T
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
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: A79V
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



High-resolution linkage and quantitative trait locus mapping aided by genome survey sequencing: building up an integrative genomic framework for a bivalve mollusc.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Jiao, Wenqian W; Fu, Xiaoteng X; Dou, Jinzhuang J; Li, Hengde H; Su, Hailin H; Mao, Junxia J; Yu, Qian Q; Zhang, Lingling L; Hu, Xiaoli X; Huang, Xiaoting X; Wang, Yangfan Y; Wang, Shi S; Bao, Zhenmin Z
Publication Date: 2014-02

Variant appearance in text: GC: A79V
PubMed Link: 24107803
Variant Present in the following documents:
  • dst043.pdf
View BVdb publication page