TG c.217G>A ;(p.V73M)

Variant ID: 8-133882014-G-A

NM_003235.4(TG):c.217G>A;(p.V73M)

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: 217G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27

Variant appearance in text: TG: 217G>A
PubMed Link: 36973604
Variant Present in the following documents:
  • 10142_2023_1039_MOESM1_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: 217G>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 8
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma.

Genome Medicine
Creaney, Jenette J; Patch, Ann-Marie AM; Addala, Venkateswar V; Sneddon, Sophie A SA; Nones, Katia K; Dick, Ian M IM; Lee, Y C Gary YCG; Newell, Felicity F; Rouse, Ebony J EJ; Naeini, Marjan M MM; Kondrashova, Olga O; Lakis, Vanessa V; Nakas, Apostolos A; Waller, David D; Sharkey, Annabel A; Mukhopadhyay, Pamela P; Kazakoff, Stephen H SH; Koufariotis, Lambros T LT; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Holmes, Oliver O; Xu, Qinying Q; Leonard, Conrad C; Wood, Scott S; Grimmond, Sean M SM; Bueno, Raphael R; Fennell, Dean A DA; Pearson, John V JV; Robinson, Bruce W BW; Waddell, Nicola N
Publication Date: 2022-05-30

Variant appearance in text: TG: 217G>A; Val73Ile
PubMed Link: 35637530
Variant Present in the following documents:
  • 13073_2022_1060_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: TG: V73M
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: TG: V73M
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Phenethylamine is a substrate of monoamine oxidase B in the paraventricular thalamic nucleus.

Scientific Reports
Obata, Youhei Y; Kubota-Sakashita, Mie M; Kasahara, Takaoki T; Mizuno, Masafumi M; Nemoto, Takahiro T; Kato, Tadafumi T
Publication Date: 2022-01-07

Variant appearance in text: TG: 217G>A
PubMed Link: 34996979
Variant Present in the following documents:
  • 41598_2021_3885_MOESM1_ESM.xlsx, sheet 6
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: 217G>A
PubMed Link: 34903606
Variant Present in the following documents:
  • can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2
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: 217G>A
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: TG: 217G>A; Val73Met
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 18
  • 13073_2021_926_MOESM5_ESM.xlsx, sheet 19
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: V73M
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
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: 217G>A
PubMed Link: 33760937
Variant Present in the following documents:
  • 122_2021_3798_MOESM22_ESM.xlsx, sheet 2
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: TG: 217G>A
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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: 217G>A
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: TG: 217G>A; Val73Ile
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 7
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: TG: V73M
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine
Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X
Publication Date: 2019-03

Variant appearance in text: TG: V73M
PubMed Link: 30857943
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Molecular Genetics And Metabolism
Uittenbogaard, Martine M; Wang, Hao H; Zhang, Victor Wei VW; Wong, Lee-Jun LJ; Brantner, Christine A CA; Gropman, Andrea A; Chiaramello, Anne A
Publication Date: 2019-04

Variant appearance in text: TG: V73M
PubMed Link: 30709774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: TG: 217G>A
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: TG: Val73Met
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Loss of Dnmt3a Immortalizes Hematopoietic Stem Cells In Vivo.

Cell Reports
Jeong, Mira M; Park, Hyun Jung HJ; Celik, Hamza H; Ostrander, Elizabeth L EL; Reyes, Jaime M JM; Guzman, Anna A; Rodriguez, Benjamin B; Lei, Yong Y; Lee, Yeojin Y; Ding, Lei L; Guryanova, Olga A OA; Li, Wei W; Goodell, Margaret A MA; Challen, Grant A GA
Publication Date: 2018-04-03

Variant appearance in text: TG: 217G>A
PubMed Link: 29617651
Variant Present in the following documents:
  • NIHMS958971-supplement-5.xlsx, sheet 1
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: Val73Met
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.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: 217G>A
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: 217G>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Cold Spring Harbor Molecular Case Studies
Zastrow, Diane B DB; Zornio, Patricia A PA; Dries, Annika A; Kohler, Jennefer J; Fernandez, Liliana L; Waggott, Daryl D; Walkiewicz, Magdalena M; Eng, Christine M CM; Manning, Melanie A MA; Farrelly, Ellyn E; , ; Fisher, Paul G PG; Ashley, Euan A EA; Bernstein, Jonathan A JA; Wheeler, Matthew T MT
Publication Date: 2017-01

Variant appearance in text: TGN: 217G>A
PubMed Link: 28050602
Variant Present in the following documents:
  • supp_mcs.a001388_TableS1.xls, sheet 1
  • supp_mcs.a001388_TableS1.xls, sheet 2
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: V73M
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.

European Journal Of Human Genetics : Ejhg
Henneman, Peter P; van der Sman-de Beer, Femke F; Moghaddam, Payman Hanifi PH; Huijts, Petra P; Stalenhoef, Anton F H AF; Kastelein, John J P JJ; van Duijn, Cornelia M CM; Havekes, Louis M LM; Frants, Rune R RR; van Dijk, Ko Willems KW; Smelt, Augustinus H M AH
Publication Date: 2009-05

Variant appearance in text: TG: V73M
PubMed Link: 19034316
Variant Present in the following documents:
  • Main text
View BVdb publication page