CCDC141 c.422C>T ;(p.A141V)

Variant ID: 2-179839888-G-A

NM_173648.3(CCDC141):c.422C>T;(p.A141V)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Multivariate Genome-wide Association Analysis by Iterative Hard Thresholding.

Bioinformatics (Oxford, England)
Chu, Benjamin B BB; Ko, Seyoon S; Zhou, Jin J JJ; Jensen, Aubrey A; Zhou, Hua H; Sinsheimer, Janet S JS; Lange, Kenneth K
Publication Date: 2023-04-17

Variant appearance in text: rs10497529
PubMed Link: 37067496
Variant Present in the following documents:
  • btad193_supplementary_data.pdf
View BVdb publication page



Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.

Nature Communications
Khurshid, Shaan S; Lazarte, Julieta J; Pirruccello, James P JP; Weng, Lu-Chen LC; Choi, Seung Hoan SH; Hall, Amelia W AW; Wang, Xin X; Friedman, Samuel F SF; Nauffal, Victor V; Biddinger, Kiran J KJ; Aragam, Krishna G KG; Batra, Puneet P; Ho, Jennifer E JE; Philippakis, Anthony A AA; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2023-03-21

Variant appearance in text: rs10497529
PubMed Link: 36944631
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_37173.pdf
  • 41467_2023_37173_MOESM2_ESM.pdf
  • 41467_2023_37173_MOESM1_ESM.pdf
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Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.

Nature Communications
Levin, Michael G MG; Tsao, Noah L NL; Singhal, Pankhuri P; Liu, Chang C; Vy, Ha My T HMT; Paranjpe, Ishan I; Backman, Joshua D JD; Bellomo, Tiffany R TR; Bone, William P WP; Biddinger, Kiran J KJ; Hui, Qin Q; Dikilitas, Ozan O; Satterfield, Benjamin A BA; Yang, Yifan Y; Morley, Michael P MP; Bradford, Yuki Y; Burke, Megan M; Reza, Nosheen N; Charest, Brian B; , ; Judy, Renae L RL; Puckelwartz, Megan J MJ; Hakonarson, Hakon H; Khan, Atlas A; Kottyan, Leah C LC; Kullo, Iftikhar I; Luo, Yuan Y; McNally, Elizabeth M EM; Rasmussen-Torvik, Laura J LJ; Day, Sharlene M SM; Do, Ron R; Phillips, Lawrence S LS; Ellinor, Patrick T PT; Nadkarni, Girish N GN; Ritchie, Marylyn D MD; Arany, Zoltan Z; Cappola, Thomas P TP; Margulies, Kenneth B KB; Aragam, Krishna G KG; Haggerty, Christopher M CM; Joseph, Jacob J; Sun, Yan V YV; Voight, Benjamin F BF; Damrauer, Scott M SM
Publication Date: 2022-11-14

Variant appearance in text: rs10497529
PubMed Link: 36376295
Variant Present in the following documents:
  • 41467_2022_Article_34216.pdf
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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: CCDC141: A141V
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare.

Genome Medicine
Hanscombe, Ken B KB; Persyn, Elodie E; Traylor, Matthew M; Glanville, Kylie P KP; Hamer, Mark M; Coleman, Jonathan R I JRI; Lewis, Cathryn M CM
Publication Date: 2021-11-09

Variant appearance in text: rs10497529
PubMed Link: 34753499
Variant Present in the following documents:
  • Main text
  • 13073_2021_Article_994.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: CCDC141: A141V; rs10497529
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: CCDC141: A141V; rs10497529
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: CCDC141: 422C>T; A141V; rs10497529
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Genetics and the heart rate response to exercise.

Cellular And Molecular Life Sciences : Cmls
van de Vegte, Yordi J YJ; Tegegne, Balewgizie S BS; Verweij, Niek N; Snieder, Harold H; van der Harst, Pim P
Publication Date: 2019-06

Variant appearance in text: rs10497529
PubMed Link: 30919020
Variant Present in the following documents:
  • Main text
  • 18_2019_Article_3079.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: CCDC141: 422C>T; rs10497529
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: CCDC141: A141V; rs10497529
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.

Nature Communications
Ramírez, Julia J; Duijvenboden, Stefan van SV; Ntalla, Ioanna I; Mifsud, Borbala B; Warren, Helen R HR; Tzanis, Evan E; Orini, Michele M; Tinker, Andrew A; Lambiase, Pier D PD; Munroe, Patricia B PB
Publication Date: 2018-05-16

Variant appearance in text: rs10497529
PubMed Link: 29769521
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4148.pdf
View BVdb publication page



Discovery of novel heart rate-associated loci using the Exome Chip.

Human Molecular Genetics
van den Berg, Marten E ME; Warren, Helen R HR; Cabrera, Claudia P CP; Verweij, Niek N; Mifsud, Borbala B; Haessler, Jeffrey J; Bihlmeyer, Nathan A NA; Fu, Yi-Ping YP; Weiss, Stefan S; Lin, Henry J HJ; Grarup, Niels N; Li-Gao, Ruifang R; Pistis, Giorgio G; Shah, Nabi N; Brody, Jennifer A JA; Müller-Nurasyid, Martina M; Lin, Honghuang H; Mei, Hao H; Smith, Albert V AV; Lyytikäinen, Leo-Pekka LP; Hall, Leanne M LM; van Setten, Jessica J; Trompet, Stella S; Prins, Bram P BP; Isaacs, Aaron A; Radmanesh, Farid F; Marten, Jonathan J; Entwistle, Aiman A; Kors, Jan A JA; Silva, Claudia T CT; Alonso, Alvaro A; Bis, Joshua C JC; de Boer, Rudolf R; de Haan, Hugoline G HG; de Mutsert, Renée R; Dedoussis, George G; Dominiczak, Anna F AF; Doney, Alex S F ASF; Ellinor, Patrick T PT; Eppinga, Ruben N RN; Felix, Stephan B SB; Guo, Xiuqing X; Hagemeijer, Yanick Y; Hansen, Torben T; Harris, Tamara B TB; Heckbert, Susan R SR; Huang, Paul L PL; Hwang, Shih-Jen SJ; Kähönen, Mika M; Kanters, Jørgen K JK; Kolcic, Ivana I; Launer, Lenore J LJ; Li, Man M; Yao, Jie J; Linneberg, Allan A; Liu, Simin S; Macfarlane, Peter W PW; Mangino, Massimo M; Morris, Andrew D AD; Mulas, Antonella A; Murray, Alison D AD; Nelson, Christopher P CP; Orrú, Marco M; Padmanabhan, Sandosh S; Peters, Annette A; Porteous, David J DJ; Poulter, Neil N; Psaty, Bruce M BM; Qi, Lihong L; Raitakari, Olli T OT; Rivadeneira, Fernando F; Roselli, Carolina C; Rudan, Igor I; Sattar, Naveed N; Sever, Peter P; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Spector, Timothy D TD; Stanton, Alice V AV; Stirrups, Kathleen E KE; Taylor, Kent D KD; Tobin, Martin D MD; Uitterlinden, André A; Vaartjes, Ilonca I; Hoes, Arno W AW; van der Meer, Peter P; Völker, Uwe U; Waldenberger, Melanie M; Xie, Zhijun Z; Zoledziewska, Magdalena M; Tinker, Andrew A; Polasek, Ozren O; Rosand, Jonathan J; Jamshidi, Yalda Y; van Duijn, Cornelia M CM; Zeggini, Eleftheria E; Jukema, J Wouter JW; Asselbergs, Folkert W FW; Samani, Nilesh J NJ; Lehtimäki, Terho T; Gudnason, Vilmundur V; Wilson, James J; Lubitz, Steven A SA; Kääb, Stefan S; Sotoodehnia, Nona N; Caulfield, Mark J MJ; Palmer, Colin N A CNA; Sanna, Serena S; Mook-Kanamori, Dennis O DO; Deloukas, Panos P; Pedersen, Oluf O; Rotter, Jerome I JI; Dörr, Marcus M; O'Donnell, Chris J CJ; Hayward, Caroline C; Arking, Dan E DE; Kooperberg, Charles C; van der Harst, Pim P; Eijgelsheim, Mark M; Stricker, Bruno H BH; Munroe, Patricia B PB
Publication Date: 2017-06-15

Variant appearance in text: CCDC141: Ala141Val; rs10497529
PubMed Link: 28379579
Variant Present in the following documents:
  • Main text
  • ddx113.pdf
View BVdb publication page



Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical Immunology (Orlando, Fla.)
van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY
Publication Date: 2015-10

Variant appearance in text: CCDC141: 422C>T; A141V
PubMed Link: 26122175
Variant Present in the following documents:
  • NIHMS64345-supplement-Supplementary_tables.xlsx, sheet 10
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: CCDC141: A141V; rs10497529
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page