CCDC63 c.925C>T ;(p.R309W)

Variant ID: 12-111321905-C-T

NM_152591.1(CCDC63):c.925C>T;(p.R309W)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: CCDC63: R309W; rs116780136
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
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: CCDC63: R309W; rs116780136
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: CCDC63: R309W
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Nature Communications
Bizet, Albane A AA; Becker-Heck, Anita A; Ryan, Rebecca R; Weber, Kristina K; Filhol, Emilie E; Krug, Pauline P; Halbritter, Jan J; Delous, Marion M; Lasbennes, Marie-Christine MC; Linghu, Bolan B; Oakeley, Edward J EJ; Zarhrate, Mohammed M; Nitschké, Patrick P; Garfa-Traore, Meriem M; Serluca, Fabrizio F; Yang, Fan F; Bouwmeester, Tewis T; Pinson, Lucile L; Cassuto, Elisabeth E; Dubot, Philippe P; Elshakhs, Neveen A Soliman NAS; Sahel, José A JA; Salomon, Rémi R; Drummond, Iain A IA; Gubler, Marie-Claire MC; Antignac, Corinne C; Chibout, Salahdine S; Szustakowski, Joseph D JD; Hildebrandt, Friedhelm F; Lorentzen, Esben E; Sailer, Andreas W AW; Benmerah, Alexandre A; Saint-Mezard, Pierre P; Saunier, Sophie S
Publication Date: 2015-10-21

Variant appearance in text: CCDC63: 925C>T; R309W; rs116780136
PubMed Link: 26487268
Variant Present in the following documents:
  • ncomms9666-s1.pdf
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: CCDC63: R309W; rs116780136
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 16
View BVdb publication page