TCN2 c.1196G>A ;(p.R399Q)

Variant ID: 22-31019044-G-A

NM_000355.3(TCN2):c.1196G>A;(p.R399Q)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: TCN2: R399Q
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

Bmc Pediatrics
Zhan, Shihong S; Cheng, Fangfang F; He, Hailong H; Hu, Shaoyan S; Feng, Xing X
Publication Date: 2020-10-06

Variant appearance in text: TCN2: Arg399Gln
PubMed Link: 33023511
Variant Present in the following documents:
  • Main text
  • 12887_2020_Article_2357.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: TCN2: 1196G>A; Arg399Gln
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Pathway analysis of genetic variants in folate-mediated one-carbon metabolism-related genes and survival in a prospectively followed cohort of colorectal cancer patients.

Cancer Medicine
Ose, Jennifer J; Botma, Akke A; Balavarca, Yesilda Y; Buck, Katharina K; Scherer, Dominique D; Habermann, Nina N; Beyerle, Jolantha J; Pfütze, Katrin K; Seibold, Petra P; Kap, Elisabeth J EJ; Benner, Axel A; Jansen, Lina L; Butterbach, Katja K; Hoffmeister, Michael M; Brenner, Hermann H; Ulrich, Alexis A; Schneider, Martin M; Chang-Claude, Jenny J; Burwinkel, Barbara B; Ulrich, Cornelia M CM
Publication Date: 2018-05-29

Variant appearance in text: rs4820889
PubMed Link: 29845757
Variant Present in the following documents:
  • Main text
  • CAM4-7-2797.pdf
View BVdb publication page



Pathway analysis of genetic variants in folate-mediated one-carbon metabolism-related genes and survival in a prospectively followed cohort of colorectal cancer patients.

Cancer Medicine
Ose, Jennifer J; Botma, Akke A; Balavarca, Yesilda Y; Buck, Katharina K; Scherer, Dominique D; Habermann, Nina N; Beyerle, Jolantha J; Pfütze, Katrin K; Seibold, Petra P; Kap, Elisabeth J EJ; Benner, Axel A; Jansen, Lina L; Butterbach, Katja K; Hoffmeister, Michael M; Brenner, Hermann H; Ulrich, Alexis A; Schneider, Martin M; Chang-Claude, Jenny J; Burwinkel, Barbara B; Ulrich, Cornelia M CM
Publication Date: 2018-07

Variant appearance in text: rs4820889
PubMed Link: 29845757
Variant Present in the following documents:
  • Main text
  • CAM4-7-2797.pdf
View BVdb publication page



Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24

Variant appearance in text: TCN2: R399Q; rs4820889
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TCN2: R399Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs4820889
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs4820889
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TCN2: R399Q; rs4820889
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: TCN2: R399Q; rs4820889
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: TCN2: R399Q; rs4820889
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Neural tube defects, folic acid and methylation.

International Journal Of Environmental Research And Public Health
Imbard, Apolline A; Benoist, Jean-François JF; Blom, Henk J HJ
Publication Date: 2013-09-17

Variant appearance in text: rs4820889
PubMed Link: 24048206
Variant Present in the following documents:
  • Main text
  • ijerph-10-04352.pdf
View BVdb publication page



Genetic variant of AMD1 is associated with obesity in urban Indian children.

Plos One
Tabassum, Rubina R; Jaiswal, Alok A; Chauhan, Ganesh G; Dwivedi, Om Prakash OP; Ghosh, Saurabh S; Marwaha, Raman K RK; Tandon, Nikhil N; Bharadwaj, Dwaipayan D
Publication Date: 2012

Variant appearance in text: TCN2: R399Q; rs4820889
PubMed Link: 22496743
Variant Present in the following documents:
View BVdb publication page



Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk.

Neurology
Hsu, F-C FC; Sides, E G EG; Mychaleckyj, J C JC; Worrall, B B BB; Elias, G A GA; Liu, Y Y; Chen, W-M WM; Coull, B M BM; Toole, J F JF; Rich, S S SS; Furie, K L KL; Sale, M M MM
Publication Date: 2011-10-18

Variant appearance in text: rs4820889
PubMed Link: 21975197
Variant Present in the following documents:
  • Main text
View BVdb publication page