TG c.6553C>T ;(p.R2185W)

Variant ID: 8-134026000-C-T

NM_003235.4(TG):c.6553C>T;(p.R2185W)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Circulation. Genomic And Precision Medicine
Hoorntje, Edgar T ET; Burns, Charlotte C; Marsili, Luisa L; Corden, Ben B; Parikh, Victoria N VN; Te Meerman, Gerard J GJ; Gray, Belinda B; Adiyaman, Ahmet A; Bagnall, Richard D RD; Barge-Schaapveld, Daniela Q C M DQCM; van den Berg, Maarten P MP; Bootsma, Marianne M; Bosman, Laurens P LP; Correnti, Gemma G; Duflou, Johan J; Eppinga, Ruben N RN; Fatkin, Diane D; Fietz, Michael M; Haan, Eric E; Jongbloed, Jan D H JDH; Hauer, Arnaud D AD; Lam, Lien L; van Lint, Freyja H M FHM; Lota, Amrit A; Marcelis, Carlo C; McCarthy, Hugh J HJ; van Mil, Anneke M AM; Oldenburg, Rogier A RA; Pachter, Nicholas N; Planken, R Nils RN; Reuter, Chloe C; Semsarian, Christopher C; van der Smagt, Jasper J JJ; Thompson, Tina T; Vohra, Jitendra J; Volders, Paul G A PGA; van Waning, Jaap I JI; Whiffin, Nicola N; van den Wijngaard, Arthur A; Amin, Ahmad S AS; Wilde, Arthur A M AAM; van Woerden, Gijs G; Yeates, Laura L; Zentner, Dominica D; Ashley, Euan A EA; Wheeler, Matthew T MT; Ware, James S JS; van Tintelen, J Peter JP; Ingles, Jodie J
Publication Date: 2022-12-29

Variant appearance in text: TG: 6553C>T
PubMed Link: 36580316
Variant Present in the following documents:
  • hcg-16-e003672-s002.xlsx, sheet 3
View BVdb publication page



Single-Cell Transcriptome Analysis Uncovers Intratumoral Heterogeneity and Underlying Mechanisms for Drug Resistance in Hepatobiliary Tumor Organoids.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Zhao, Yan Y; Li, Zhi-Xuan ZX; Zhu, Yan-Jing YJ; Fu, Jing J; Zhao, Xiao-Fang XF; Zhang, Ya-Ni YN; Wang, Shan S; Wu, Jian-Min JM; Wang, Kai-Ting KT; Wu, Rui R; Sui, Cheng-Jun CJ; Shen, Si-Yun SY; Wu, Xuan X; Wang, Hong-Yang HY; Gao, Dong D; Chen, Lei L
Publication Date: 2021-06

Variant appearance in text: TG: R2185W; rs770118724
PubMed Link: 34105295
Variant Present in the following documents:
  • ADVS-8-2003897-s001.xlsx, sheet 12
  • ADVS-8-2003897-s001.xlsx, sheet 11
View BVdb publication page



High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

Plos One
Makretskaya, Nina N; Bezlepkina, Olga O; Kolodkina, Anna A; Kiyaev, Alexey A; Vasilyev, Evgeny V EV; Petrov, Vasily V; Kalinenkova, Svetlana S; Malievsky, Oleg O; Dedov, Ivan I II; Tiulpakov, Anatoly A
Publication Date: 2018

Variant appearance in text: TG: R2185W
PubMed Link: 30240412
Variant Present in the following documents:
  • Main text
  • pone.0204323.pdf
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: TG: 6553C>T
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TG: 6553C>T; R2185W
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, 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: R2185W
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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: TG: R2185W
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page