TBC1D24 c.724C>T ;(p.R242C)

Variant ID: 16-2546873-C-T

NM_001199107.1(TBC1D24):c.724C>T;(p.R242C)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: TBC1D24: 724C>T
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Protein domains provide a new layer of information for classifying human variations in rare diseases.

Frontiers In Bioinformatics
Corcuff, Mélanie M; Garibal, Marc M; Desvignes, Jean-Pierre JP; Guien, Céline C; Grattepanche, Coralie C; Collod-Béroud, Gwenaëlle G; Ménoret, Estelle E; Salgado, David D; Béroud, Christophe C
Publication Date: 2023

Variant appearance in text: TBC1D24: Arg242Cys
PubMed Link: 36896423
Variant Present in the following documents:
  • Main text
  • fbinf-03-1127341.pdf
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: TBC1D24: R242C
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Frontiers In Genetics
Quaio, Caio Robledo D' Angioli Costa CRAC; Coelho, Antonio Victor Campos AVC; Moura, Livia Maria Silva LMS; Guedes, Rafael Lucas Muniz RLM; Chen, Kelin K; Ceroni, Jose Ricardo Magliocco JRM; Minillo, Renata Moldenhauer RM; Caraciolo, Marcel Pinheiro MP; Reis, Rodrigo de Souza RS; de Azevedo, Bruna Mascaro Cordeiro BMC; Nobrega, Maria Soares MS; Teixeira, Anne Caroline Barbosa ACB; Martinelli Lima, Matheus M; da Mota, Thamara Rayssa TR; da Matta, Marina Cadena MC; Colichio, Gabriela Borges Cherulli GBC; Roncalho, Aline Lulho AL; Ferreira, Ana Flavia Martinho AFM; Campilongo, Gabriela Pereira GP; Perrone, Eduardo E; Virmond, Luiza do Amaral LDA; Moreno, Carolina Araujo CA; Prota, Joana Rosa Marques JRM; de França, Marina M; Cervato, Murilo Castro MC; de Almeida, Tatiana Ferreira TF; de Oliveira Filho, Joao Bosco JB
Publication Date: 2022

Variant appearance in text: TBC1D24: 724C>T; Arg242Cys; rs398122965
PubMed Link: 36147510
Variant Present in the following documents:
  • Main text
  • DataSheet1.xlsx, sheet 5
  • fgene-13-921324.pdf
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: TBC1D24: 724C>T; R242C
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: TBC1D24: 724C>T; R242C
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_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: TBC1D24: 724C>T; R242C
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors.

Plos Genetics
Lin, Lianfeng L; Lyu, Quanwei Q; Kwan, Pui-Yi PY; Zhao, Junjun J; Fan, Ruolin R; Chai, Anping A; Lai, Cora Sau Wan CSW; Chan, Ying-Shing YS; Shen, Xuting X; Lai, Kwok-On KO
Publication Date: 2020-01

Variant appearance in text: TBC1D24: R242C
PubMed Link: 32004315
Variant Present in the following documents:
  • Main text
  • pgen.1008587.pdf
View BVdb publication page



Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Frontiers In Neuroscience
Fernández-Marmiesse, Ana A; Roca, Iria I; Díaz-Flores, Felícitas F; Cantarín, Verónica V; Pérez-Poyato, Mª Socorro MS; Fontalba, Ana A; Laranjeira, Francisco F; Quintans, Sofia S; Moldovan, Oana O; Felgueroso, Blanca B; Rodríguez-Pedreira, Montserrat M; Simón, Rogelio R; Camacho, Ana A; Quijada, Pilar P; Ibanez-Mico, Salvador S; Domingno, Mª Rosario MR; Benito, Carmen C; Calvo, Rocío R; Pérez-Cejas, Antonia A; Carrasco, Mª Llanos ML; Ramos, Feliciano F; Couce, Mª Luz ML; Ruiz-Falcó, Mª Luz ML; Gutierrez-Solana, Luis L; Martínez-Atienza, Margarita M
Publication Date: 2019

Variant appearance in text: TBC1D24: 724C>T; R242C; rs398122965
PubMed Link: 31780880
Variant Present in the following documents:
  • Main text
  • fnins-13-01135.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: TBC1D24: 724C>T; Arg242Cys
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TBC1D24: 724C>T; Arg242Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Ngoh, Adeline A; Bras, Jose J; Guerreiro, Rita R; McTague, Amy A; Ng, Joanne J; Meyer, Esther E; Chong, W Kling WK; Boyd, Stewart S; MacLellan, Linda L; Kirkpatrick, Martin M; Kurian, Manju A MA
Publication Date: 2017

Variant appearance in text: DFNA65: 724C>T
PubMed Link: 28428906
Variant Present in the following documents:
  • Main text
  • tre-07-452-7522-1.pdf
View BVdb publication page



TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Neurology
Balestrini, Simona S; Milh, Mathieu M; Castiglioni, Claudia C; Lüthy, Kevin K; Finelli, Mattea J MJ; Verstreken, Patrik P; Cardon, Aaron A; Stražišar, Barbara Gnidovec BG; Holder, J Lloyd JL; Lesca, Gaetan G; Mancardi, Maria M MM; Poulat, Anne L AL; Repetto, Gabriela M GM; Banka, Siddharth S; Bilo, Leonilda L; Birkeland, Laura E LE; Bosch, Friedrich F; Brockmann, Knut K; Cross, J Helen JH; Doummar, Diane D; Félix, Temis M TM; Giuliano, Fabienne F; Hori, Mutsuki M; Hüning, Irina I; Kayserili, Hulia H; Kini, Usha U; Lees, Melissa M MM; Meenakshi, Girish G; Mewasingh, Leena L; Pagnamenta, Alistair T AT; Peluso, Silvio S; Mey, Antje A; Rice, Gregory M GM; Rosenfeld, Jill A JA; Taylor, Jenny C JC; Troester, Matthew M MM; Stanley, Christine M CM; Ville, Dorothee D; Walkiewicz, Magdalena M; Falace, Antonio A; Fassio, Anna A; Lemke, Johannes R JR; Biskup, Saskia S; Tardif, Jessica J; Ajeawung, Norbert F NF; Tolun, Aslihan A; Corbett, Mark M; Gecz, Jozef J; Afawi, Zaid Z; Howell, Katherine B KB; Oliver, Karen L KL; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; de Falco, Fabrizio A FA; Oliver, Peter L PL; Striano, Pasquale P; Zara, Federico F; Campeau, Phillipe M PM; Sisodiya, S M SM
Publication Date: 2016-07-05

Variant appearance in text: TBC1D24: Arg242Cys
PubMed Link: 27281533
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2015707513.pdf
View BVdb publication page



The genetic basis of DOORS syndrome: an exome-sequencing study.

The Lancet. Neurology
Campeau, Philippe M PM; Kasperaviciute, Dalia D; Lu, James T JT; Burrage, Lindsay C LC; Kim, Choel C; Hori, Mutsuki M; Powell, Berkley R BR; Stewart, Fiona F; Félix, Têmis Maria TM; van den Ende, Jenneke J; Wisniewska, Marzena M; Kayserili, Hülya H; Rump, Patrick P; Nampoothiri, Sheela S; Aftimos, Salim S; Mey, Antje A; Nair, Lal D V LD; Begleiter, Michael L ML; De Bie, Isabelle I; Meenakshi, Girish G; Murray, Mitzi L ML; Repetto, Gabriela M GM; Golabi, Mahin M; Blair, Edward E; Male, Alison A; Giuliano, Fabienne F; Kariminejad, Ariana A; Newman, William G WG; Bhaskar, Sanjeev S SS; Dickerson, Jonathan E JE; Kerr, Bronwyn B; Banka, Siddharth S; Giltay, Jacques C JC; Wieczorek, Dagmar D; Tostevin, Anna A; Wiszniewska, Joanna J; Cheung, Sau Wai SW; Hennekam, Raoul C RC; Gibbs, Richard A RA; Lee, Brendan H BH; Sisodiya, Sanjay M SM
Publication Date: 2014-01

Variant appearance in text: TBC1D24: Arg242Cys
PubMed Link: 24291220
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
View BVdb publication page