TG c.138A>T ;(p.A46=)

Variant ID: 8-133880430-A-T

NM_003235.4(TG):c.138A>T;(p.A46=)

This variant was identified in 15 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: 138A>T
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: Ala46Ala
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



Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance
Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P
Publication Date: 2022-10-13

Variant appearance in text: TG: Ala46Ala
PubMed Link: 36229065
Variant Present in the following documents:
  • LSA-2022-01551_TableS16.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: TG: A46A
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Monoallelic Heb/Tcf12 Deletion Reduces the Requirement for NOTCH1 Hyperactivation in T-Cell Acute Lymphoblastic Leukemia.

Frontiers In Immunology
Veiga, Diogo F T DFT; Tremblay, Mathieu M; Gerby, Bastien B; Herblot, Sabine S; Haman, André A; Gendron, Patrick P; Lemieux, Sébastien S; Zúñiga-Pflücker, Juan Carlos JC; Hébert, Josée J; Cohen, Joseph Paul JP; Hoang, Trang T
Publication Date: 2022

Variant appearance in text: TG: A46A
PubMed Link: 35401501
Variant Present in the following documents:
  • DataSheet_2.xls, sheet 1
View BVdb publication page



A stable isotope dilution method for a highly accurate analysis of karrikins.

Plant Methods
Hrdlička, Jakub J; Gucký, Tomáš T; van Staden, Johannes J; Novák, Ondřej O; Doležal, Karel K
Publication Date: 2021-04-01

Variant appearance in text: TG: A46A
PubMed Link: 33794941
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).

Plos One
Tokunaga, Hideki H; Iida, Keita K; Hozawa, Atsushi A; Ogishima, Soichi S; Watanabe, Yoh Y; Shigeta, Shogo S; Shimada, Muneaki M; Yamaguchi-Kabata, Yumi Y; Tadaka, Shu S; Katsuoka, Fumiki F; Ito, Shin S; Kumada, Kazuki K; Hamanaka, Yohei Y; Fuse, Nobuo N; Kinoshita, Kengo K; Yamamoto, Masayuki M; Yaegashi, Nobuo N; Yasuda, Jun J
Publication Date: 2021

Variant appearance in text: TG: A46A
PubMed Link: 33428613
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: TG: 138A>T
PubMed Link: 33380328
Variant Present in the following documents:
  • 12967_2020_2675_MOESM1_ESM.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: TG: 138A>T
PubMed Link: 32514072
Variant Present in the following documents:
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 2
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 13
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 6
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 16
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 11
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 3
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 14
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 12
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 20
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 22
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 7
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 5
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 21
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 17
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 15
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 8
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 1
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 10
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 9
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 18
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 4
View BVdb publication page



Simultaneous determination of five essential amino acids in plasma of Hyperlipidemic subjects by UPLC-MS/MS.

Lipids In Health And Disease
Chen, Zhibin Z; Lin, Feiyan F; Ye, Xuemei X; Dong, Yuqian Y; Hu, Lufeng L; Huang, Aifang A
Publication Date: 2020-03-23

Variant appearance in text: TG: A46A
PubMed Link: 32293459
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: TG: a46a
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 11
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: 138A>T
PubMed Link: 28663342
Variant Present in the following documents:
  • 2413FileS2.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: TG: 138A>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: TG: 138A>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: TG: A46A
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page