DKC1 c.838A>C ;(p.S280R)

Variant ID: X-153997508-A-C

NM_001363.3(DKC1):c.838A>C;(p.S280R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


BRD9 degraders as chemosensitizers in acute leukemia and multiple myeloma.

Blood Cancer Journal
Weisberg, Ellen E; Chowdhury, Basudev B; Meng, Chengcheng C; Case, Abigail E AE; Ni, Wei W; Garg, Swati S; Sattler, Martin M; Azab, Abdel Kareem AK; Sun, Jennifer J; Muz, Barbara B; Sanchez, Dana D; Toure, Anthia A; Stone, Richard M RM; Galinsky, Ilene I; Winer, Eric E; Gleim, Scott S; Gkountela, Sofia S; Kedves, Alexia A; Harrington, Edmund E; Abrams, Tinya T; Zoller, Thomas T; Vaupel, Andrea A; Manley, Paul P; Faller, Michael M; Chung, BoYee B; Chen, Xin X; Busenhart, Philipp P; Stephan, Christine C; Calkins, Keith K; Bonenfant, Debora D; Thoma, Claudio R CR; Forrester, William W; Griffin, James D JD
Publication Date: 2022-07-19

Variant appearance in text: DKC1: 838A>C; S280R
PubMed Link: 35853853
Variant Present in the following documents:
View BVdb publication page



Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.

Frontiers In Pediatrics
Wang, Liqing L; Li, Jianwei J; Xiong, Qiuhong Q; Zhou, Yong-An YA; Li, Ping P; Wu, Changxin C
Publication Date: 2022

Variant appearance in text: dyskerin: S280R
PubMed Link: 35463902
Variant Present in the following documents:
  • Main text
  • fped-10-834268.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: DKC1: S280R; rs146700772
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: DKC1: S280R
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis.

American Journal Of Respiratory And Critical Care Medicine
Ley, Brett B; Torgerson, Dara G DG; Oldham, Justin M JM; Adegunsoye, Ayodeji A; Liu, Shuo S; Li, Jie J; Elicker, Brett M BM; Henry, Travis S TS; Golden, Jeffrey A JA; Jones, Kirk D KD; Dressen, Amy A; Yaspan, Brian L BL; Arron, Joseph R JR; Noth, Imre I; Hoffmann, Thomas J TJ; Wolters, Paul J PJ
Publication Date: 2019-11-01

Variant appearance in text: DKC1: S280R; rs146700772
PubMed Link: 31268371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Npj Genomic Medicine
Friedman, Daniel D; Kannan, Kasthuri K; Faustin, Arline A; Shroff, Seema S; Thomas, Cheddhi C; Heguy, Adriana A; Serrano, Jonathan J; Snuderl, Matija M; Devinsky, Orrin O
Publication Date: 2018

Variant appearance in text: DKC1: S280R; rs146700772
PubMed Link: 29619247
Variant Present in the following documents:
  • 41525_2018_48_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Clonal hematopoiesis in patients with dyskeratosis congenita.

American Journal Of Hematology
Perdigones, Nieves N; Perin, Juan C JC; Schiano, Irene I; Nicholas, Peter P; Biegel, Jaclyn A JA; Mason, Philip J PJ; Babushok, Daria V DV; Bessler, Monica M
Publication Date: 2016-12

Variant appearance in text: DKC1: 838A>C
PubMed Link: 27622320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-function relationships of archaeal Cbf5 during in vivo RNA-guided pseudouridylation.

Rna (New York, N.Y.)
Majumder, Mrinmoyee M; Bosmeny, Michael S MS; Gupta, Ramesh R
Publication Date: 2016-10

Variant appearance in text: Cbf5: S280R
PubMed Link: 27539785
Variant Present in the following documents:
  • Main text
  • 1604.pdf
View BVdb publication page



Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Human Molecular Genetics
Ng, Calista K L CK; Shboul, Mohammad M; Taverniti, Valerio V; Bonnard, Carine C; Lee, Hane H; Eskin, Ascia A; Nelson, Stanley F SF; Al-Raqad, Mohammed M; Altawalbeh, Samah S; Séraphin, Bertrand B; Reversade, Bruno B
Publication Date: 2015-06-01

Variant appearance in text: DKC1: 838A>C
PubMed Link: 25712129
Variant Present in the following documents:
  • supp_ddv067_ddv067supp_table_1.xls, sheet 1
View BVdb publication page



Medical genetics and epigenetics of telomerase.

Journal Of Cellular And Molecular Medicine
Koziel, Jillian E JE; Fox, Melanie J MJ; Steding, Catherine E CE; Sprouse, Alyssa A AA; Herbert, Brittney-Shea BS
Publication Date: 2011-03

Variant appearance in text: DKC1: S280R
PubMed Link: 21323862
Variant Present in the following documents:
  • Main text
  • jcmm0015-0457.pdf
View BVdb publication page