C8B c.1144G>T ;(p.D382Y)

Variant ID: 1-57409459-C-A

NM_000066.3(C8B):c.1144G>T;(p.D382Y)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration.

Iscience
Zelinger, Lina L; Martin, Tammy M TM; Advani, Jayshree J; Campello, Laura L; English, Milton A MA; Kwong, Alan A; Weber, Claire C; Maykoski, Jennifer J; Sergeev, Yuri V YV; Fariss, Robert R; Chew, Emily Y EY; Klein, Michael L ML; Swaroop, Anand A
Publication Date: 2023-04-21

Variant appearance in text: C8B: D382Y; rs139498867
PubMed Link: 37153444
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: C8B: D382Y
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies.

Frontiers In Neurology
Hatchwell, Eli E; Smith, Edward B EB; Jalilzadeh, Shapour S; Bruno, Christopher D CD; Taoufik, Yassine Y; Hendel-Chavez, Houria H; Liblau, Roland R; Brassat, David D; Martin-Blondel, Guillaume G; Wiendl, Heinz H; Schwab, Nicholas N; Cortese, Irene I; Monaco, Maria Chiara MC; Imberti, Luisa L; Capra, Ruggero R; Oksenberg, Jorge R JR; Gasnault, Jacques J; Stankoff, Bruno B; Richmond, Todd A TA; Rancour, David M DM; Koralnik, Igor J IJ; Hanson, Barbara A BA; Major, Eugene O EO; Chow, Christina R CR; Eis, Peggy S PS
Publication Date: 2022

Variant appearance in text: rs139498867
PubMed Link: 36588876
Variant Present in the following documents:
  • Main text
  • Data_Sheet_1.pdf
  • fneur-13-1016377.pdf
View BVdb publication page



Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11

Variant appearance in text: C8B: 1144G>T; Asp382Tyr
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s006.xlsx, sheet 1
View BVdb publication page



Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
D'Alterio, Giuseppe G; Lasorsa, Vito Alessandro VA; Bonfiglio, Ferdinando F; Cantalupo, Sueva S; Rosato, Barbara Eleni BE; Andolfo, Immacolata I; Russo, Roberta R; Esposito, Umberto U; Frisso, Giulia G; Abete, Pasquale P; Cassese, Gian Marco GM; Servillo, Giuseppe G; Gentile, Ivan I; Piscopo, Carmelo C; Della Monica, Matteo M; Fiorentino, Giuseppe G; Boccia, Angelo A; Paolella, Giovanni G; Ferrucci, Veronica V; de Antonellis, Pasqualino P; Siciliano, Roberto R; Asadzadeh, Fathem F; Cerino, Pellegrino P; Buonerba, Carlo C; Pierri, Biancamaria B; Zollo, Massimo M; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2022-08

Variant appearance in text: C8B: 1144G>T; Asp382Tyr; rs139498867
PubMed Link: 35511137
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: C8B: 1144G>T; D382Y; rs139498867
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Doher, Nicholas N; Gupta, Harsh V HV
Publication Date: 2019

Variant appearance in text: C8B: D382Y
PubMed Link: 31824748
Variant Present in the following documents:
  • tre-09-739-s003.xlsx, sheet 3
View BVdb publication page



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: C8B: D382Y; rs139498867
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.

Mayo Clinic Proceedings
Ravindran, Aishwarya A; Fervenza, Fernando C FC; Smith, Richard J H RJH; De Vriese, An S AS; Sethi, Sanjeev S
Publication Date: 2018-08

Variant appearance in text: C8B: 1144G>T; Asp382Tyr
PubMed Link: 30077216
Variant Present in the following documents:
  • Main text
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: C8B: D382Y; rs139498867
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: C8B: D382Y; rs139498867
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs139498867
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Nature Genetics
Le Gallo, Matthieu M; O'Hara, Andrea J AJ; Rudd, Meghan L ML; Urick, Mary Ellen ME; Hansen, Nancy F NF; O'Neil, Nigel J NJ; Price, Jessica C JC; Zhang, Suiyuan S; England, Bryant M BM; Godwin, Andrew K AK; Sgroi, Dennis C DC; , ; Hieter, Philip P; Mullikin, James C JC; Merino, Maria J MJ; Bell, Daphne W DW
Publication Date: 2012-12

Variant appearance in text: C8B: D382Y
PubMed Link: 23104009
Variant Present in the following documents:
  • NIHMS412622-supplement-3.xls, sheet 1
  • NIHMS412622-supplement-8.xls, sheet 1
View BVdb publication page