CFHR2 c.791A>G ;(p.Y264C)

Variant ID: 1-196928188-A-G

NM_005666.2(CFHR2):c.791A>G;(p.Y264C)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Drug-induced thrombotic microangiopathy: An updated review of causative drugs, pathophysiology, and management.

Frontiers In Pharmacology
Mazzierli, Tommaso T; Allegretta, Federica F; Maffini, Enrico E; Allinovi, Marco M
Publication Date: 2022

Variant appearance in text: CFHR2: Y264C
PubMed Link: 36699080
Variant Present in the following documents:
  • Main text
  • fphar-13-1088031.pdf
View BVdb publication page



Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.

American Journal Of Human Genetics
Kumar, Vikrant V; Pouw, Richard B RB; Autio, Matias I MI; Sagmeister, Manfred G MG; Phua, Zai Yang ZY; Borghini, Lisa L; Wright, Victoria J VJ; Hoggart, Clive C; Pan, Bangfen B; Tan, Antson Kiat Yee AKY; Binder, Alexander A; Brouwer, Mieke C MC; Pinnock, Ellie E; De Groot, Ronald R; Hazelzet, Jan J; Emonts, Marieke M; Van Der Flier, Michiel M; Reiter, Karl K; Nöthen, Markus M MM; Hoffmann, Per P; , ; Schlapbach, Luregn J LJ; Bellos, Evangelos E; Anderson, Suzanne S; Secka, Fatou F; Martinón-Torres, Federico F; Salas, Antonio A; Fink, Colin C; Carrol, Enitan D ED; Pollard, Andrew J AJ; Coin, Lachlan J LJ; Zenz, Werner W; Wouters, Diana D; Ang, Lay Teng LT; Hibberd, Martin L ML; Levin, Michael M; Kuijpers, Taco W TW; Davila, Sonia S
Publication Date: 2022-09-01

Variant appearance in text: rs41310132
PubMed Link: 36007525
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.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: CFHR2: Y264C; rs41310132
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.

American Journal Of Human Genetics
Lorés-Motta, Laura L; van Beek, Anna E AE; Willems, Esther E; Zandstra, Judith J; van Mierlo, Gerard G; Einhaus, Alfred A; Mary, Jean-Luc JL; Stucki, Corinne C; Bakker, Bjorn B; Hoyng, Carel B CB; Fauser, Sascha S; Clark, Simon J SJ; de Jonge, Marien I MI; Nogoceke, Everson E; Koertvely, Elod E; Jongerius, Ilse I; Kuijpers, Taco W TW; den Hollander, Anneke I AI
Publication Date: 2021-08-05

Variant appearance in text: CFHR2: Tyr264Cys; rs41310132
PubMed Link: 34260947
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: rs41310132
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.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: CFHR2: Y264C; rs41310132
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
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: CFHR2: Y264C; rs41310132
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Eculizumab in secondary atypical haemolytic uraemic syndrome.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Cavero, Teresa T; Rabasco, Cristina C; López, Antía A; Román, Elena E; Ávila, Ana A; Sevillano, Ángel Á; Huerta, Ana A; Rojas-Rivera, Jorge J; Fuentes, Carolina C; Blasco, Miquel M; Jarque, Ana A; García, Alba A; Mendizabal, Santiago S; Gavela, Eva E; Macía, Manuel M; Quintana, Luis F LF; María Romera, Ana A; Borrego, Josefa J; Arjona, Emi E; Espinosa, Mario M; Portolés, José J; Gracia-Iguacel, Carolina C; González-Parra, Emilio E; Aljama, Pedro P; Morales, Enrique E; Cao, Mercedes M; Rodríguez de Córdoba, Santiago S; Praga, Manuel M
Publication Date: 2017-03-01

Variant appearance in text: CFHR2: Y264C
PubMed Link: 28339660
Variant Present in the following documents:
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: CFHR2: 791A>G; Y264C
PubMed Link: 26122175
Variant Present in the following documents:
  • NIHMS64345-supplement-Supplementary_tables.xlsx, sheet 5
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: CFHR2: Y264C; rs41310132
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: CFHR2: Y264C
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
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: CFHR2: Y264C; rs41310132
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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: CFHR2: Y264C; rs41310132
PubMed Link: 24036952
Variant Present in the following documents:
  • Main text
  • nihms-512112.pdf
  • NIHMS512112-supplement-2.xlsx, sheet 2
  • NIHMS512112-supplement-1.pdf
View BVdb publication page