TG c.6C>A ;(p.A2=)

Variant ID: 8-133879251-C-A

NM_003235.4(TG):c.6C>A;(p.A2=)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Effect of Vanillin on the Anaesthesia of Crucian Carp: Effects on Physiological and Biochemical Indices, Pathology, and Volatile Aroma Components.

Foods (Basel, Switzerland)
Jiang, Lexia L; Tang, Jiaming J; Huang, Baosheng B; Zhang, Changfeng C; Jiang, Peihong P; Chen, Dongjie D
Publication Date: 2023-04-11

Variant appearance in text: TG: A2=
PubMed Link: 37107410
Variant Present in the following documents:
  • foods-12-01614.pdf
View BVdb publication page



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: 6C>A
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: 6C>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Proteogenomic characterization of MiT family translocation renal cell carcinoma.

Nature Communications
Qu, Yuanyuan Y; Wu, Xiaohui X; Anwaier, Aihetaimujiang A; Feng, Jinwen J; Xu, Wenhao W; Pei, Xiaoru X; Zhu, Yu Y; Liu, Yang Y; Bai, Lin L; Yang, Guojian G; Tian, Xi X; Su, Jiaqi J; Shi, Guo-Hai GH; Cao, Da-Long DL; Xu, Fujiang F; Wang, Yue Y; Gan, Hua-Lei HL; Ni, Shujuan S; Sun, Meng-Hong MH; Zhao, Jian-Yuan JY; Zhang, Hailiang H; Ye, Dingwei D; Ding, Chen C
Publication Date: 2022-12-05

Variant appearance in text: TG: Ala2=
PubMed Link: 36470859
Variant Present in the following documents:
  • 41467_2022_34460_MOESM5_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: A2=
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Serum miRNA Profile in Diabetic Patients With Ischemic Heart Disease as a Promising Non-Invasive Biomarker.

Frontiers In Endocrinology
Bielska, Agnieszka A; Niemira, Magdalena M; Bauer, Witold W; Sidorkiewicz, Iwona I; Szałkowska, Anna A; Skwarska, Anna A; Raczkowska, Justyna J; Ostrowski, Damian D; Gugała, Kamil K; Dobrzycki, Sławomir S; Krętowski, Adam A
Publication Date: 2022

Variant appearance in text: TG: a2=
PubMed Link: 35663309
Variant Present in the following documents:
  • fendo-13-888948.pdf
View BVdb publication page



SLC4A4, FRAS1, and SULT1A1 Genetic Variations Associated With Dabigatran Metabolism in a Healthy Chinese Population.

Frontiers In Genetics
Xie, Qiufen Q; Li, Yuan Y; Liu, Zhiyan Z; Mu, Guangyan G; Zhang, Hanxu H; Zhou, Shuang S; Wang, Zhe Z; Wang, Zining Z; Jiang, Jie J; Li, Xin X; Xiang, Qian Q; Cui, Yimin Y
Publication Date: 2022

Variant appearance in text: TG: A2=
PubMed Link: 35646073
Variant Present in the following documents:
  • fgene-13-873031.pdf
View BVdb publication page



Health consequences of exposure to e-waste: an updated systematic review.

The Lancet. Planetary Health
Parvez, Sarker M SM; Jahan, Farjana F; Brune, Marie-Noel MN; Gorman, Julia F JF; Rahman, Musarrat J MJ; Carpenter, David D; Islam, Zahir Z; Rahman, Mahbubur M; Aich, Nirupam N; Knibbs, Luke D LD; Sly, Peter D PD
Publication Date: 2021-12

Variant appearance in text: TG: A2=
PubMed Link: 34895498
Variant Present in the following documents:
  • Main text
View BVdb publication page



Health consequences of exposure to e-waste: an updated systematic review.

The Lancet. Planetary Health
Parvez, Sarker M SM; Jahan, Farjana F; Brune, Marie-Noel MN; Gorman, Julia F JF; Rahman, Musarrat J MJ; Carpenter, David D; Islam, Zahir Z; Rahman, Mahbubur M; Aich, Nirupam N; Knibbs, Luke D LD; Sly, Peter D PD
Publication Date: 2021-12

Variant appearance in text: TG: A2=
PubMed Link: 34895498
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: TG: A2A
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: TG: 6C>A
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Monitoring the Structure Evolution of Titanium Oxide Photocatalysts: From the Molecular Form via the Amorphous State to the Crystalline Phase.

Chemistry (Weinheim An Der Bergstrasse, Germany)
Onur Şahin, Ezgi E; Dai, Yitao Y; Chan, Candace K CK; Tüysüz, Harun H; Schmidt, Wolfgang W; Lim, Joohyun J; Zhang, Siyuan S; Scheu, Christina C; Weidenthaler, Claudia C
Publication Date: 2021-08-11

Variant appearance in text: TG: a2=
PubMed Link: 34060158
Variant Present in the following documents:
  • CHEM-27-11600-s001.pdf
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: TG: Ala2Ala
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: N/A
PubMed Link: 33380328
Variant Present in the following documents:
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: N/A
PubMed Link: 33230298
Variant Present in the following documents:
View BVdb publication page



Impact of body mass index and metabolic syndrome on sperm DNA fragmentation in males from infertile couples: A cross-sectional study from Vietnam.

Metabolism Open
Le, Minh Tam MT; Nguyen, Dac Nguyen DN; Le, Dinh Duong DD; Tran, Nhu Quynh Thi NQT
Publication Date: 2020-09

Variant appearance in text: TG: a2=
PubMed Link: 32924004
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Cardiometabolic risk in young adults with depression and evidence of inflammation: A birth cohort study.

Psychoneuroendocrinology
Perry, Benjamin I BI; Oltean, Bianca P BP; Jones, Peter B PB; Khandaker, Golam M GM
Publication Date: 2020-06

Variant appearance in text: TG: A2=
PubMed Link: 32339985
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Phenotypic ASCOD characterisations of ischaemic stroke in the young at an urban tertiary care centre.

Stroke And Vascular Neurology
Liu, Angela A; Pirastehfar, Mohsen M; Yu, Daohai D; Linares, Guillermo G
Publication Date: 2018-12

Variant appearance in text: TG: A2=
PubMed Link: 30637126
Variant Present in the following documents:
  • Main text
  • svn-2017-000139.pdf
View BVdb publication page



Acupuncture therapy in treating migraine: results of a magnetic resonance spectroscopy imaging study.

Journal Of Pain Research
Gu, Tao T; Lin, Lei L; Jiang, Yun Y; Chen, Juan J; D'Arcy, Ryan Cn RC; Chen, Min M; Song, Xiaowei X
Publication Date: 2018

Variant appearance in text: TG: a2=
PubMed Link: 29740217
Variant Present in the following documents:
  • Main text
  • jpr-11-889.pdf
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: 6C>A
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)
Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D
Publication Date: 2017-08-07

Variant appearance in text: TG: 6C>A
PubMed Link: 28663342
Variant Present in the following documents:
  • 2413FileS2.xlsx, sheet 1
View BVdb publication page



An innovative method to acquire the location of point A for cervical cancer treatment by HDR brachytherapy.

Journal Of Applied Clinical Medical Physics
Chang, Liyun L; Ho, Sheng-Yow SY; Yeh, Shyh-An SA; Lee, Tsair-Fwu TF; Chen, Pang-Yu PY
Publication Date: 2016-11-08

Variant appearance in text: TG: A2=
PubMed Link: 27929515
Variant Present in the following documents:
  • ACM2-17-434.pdf
View BVdb publication page



Carriers of the PCSK9 R46L Variant Are Characterized by an Antiatherogenic Lipoprotein Profile Assessed by Nuclear Magnetic Resonance Spectroscopy-Brief Report.

Arteriosclerosis, Thrombosis, And Vascular Biology
Verbeek, Rutger R; Boyer, Marjorie M; Boekholdt, S Matthijs SM; Hovingh, G Kees GK; Kastelein, John J P JJ; Wareham, Nicholas N; Khaw, Kay-Tee KT; Arsenault, Benoit J BJ
Publication Date: 2017-01

Variant appearance in text: TG: A2=
PubMed Link: 27856457
Variant Present in the following documents:
  • Main text
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: A2A
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.

Biomed Research International
Grillo, Ana Paula AP; de Oliveira, Flávia Marcorin FM; de Carvalho, Gabriela Queila GQ; Medrano, Ruan Felipe Vieira RF; da Silva-Costa, Sueli Matilde SM; Sartorato, Edi Lúcia EL; de Oliveira, Camila Andréa CA
Publication Date: 2015

Variant appearance in text: TG: A2=
PubMed Link: 26075227
Variant Present in the following documents:
  • BMRI2015-318727.pdf
View BVdb publication page



Dosimetric characterizations of GZP6 (60)Co high dose rate brachytherapy sources: application of superimposition method.

Radiology And Oncology
Bahreyni Toossi, Mohammad Taghi MT; Ghorbani, Mahdi M; Mowlavi, Ali Asghar AA; Meigooni, Ali Soleimani AS
Publication Date: 2012-06

Variant appearance in text: TG: a2=
PubMed Link: 23077455
Variant Present in the following documents:
  • rado-46-02-170.pdf
View BVdb publication page