C3 c.1898A>G ;(p.K633R)

Variant ID: 19-6707888-T-C

NM_000064.2(C3):c.1898A>G;(p.K633R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Complement Factor I Variants in Complement-Mediated Renal Diseases.

Frontiers In Immunology
Zhang, Yuzhou Y; Goodfellow, Renee X RX; Ghiringhelli Borsa, Nicolo N; Dunlop, Hannah C HC; Presti, Stephen A SA; Meyer, Nicole C NC; Shao, Dingwu D; Roberts, Sarah M SM; Jones, Michael B MB; Pitcher, Gabriella R GR; Taylor, Amanda O AO; Nester, Carla M CM; Smith, Richard J H RJH
Publication Date: 2022

Variant appearance in text: C3b: 1898A>G
PubMed Link: 35619721
Variant Present in the following documents:
  • Main text
  • fimmu-13-866330.pdf
View BVdb publication page



Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.

Clinical Kidney Journal
Garam, Nóra N; Prohászka, Zoltán Z; Szilágyi, Ágnes Á; Aigner, Christof C; Schmidt, Alice A; Gaggl, Martina M; Sunder-Plassmann, Gere G; Bajcsi, Dóra D; Brunner, Jürgen J; Dumfarth, Alexandra A; Cejka, Daniel D; Flaschberger, Stefan S; Flögelova, Hana H; Haris, Ágnes Á; Hartmann, Ágnes Á; Heilos, Andreas A; Mueller, Thomas T; Rusai, Krisztina K; Arbeiter, Klaus K; Hofer, Johannes J; Jakab, Dániel D; Sinkó, Mária M; Szigeti, Erika E; Bereczki, Csaba C; Janko, Viktor V; Kelen, Kata K; Reusz, György S GS; Szabó, Attila J AJ; Klenk, Nóra N; Kóbor, Krisztina K; Kojc, Nika N; Knechtelsdorfer, Maarten M; Laganovic, Mario M; Lungu, Adrian Catalin AC; Meglic, Anamarija A; Rus, Rina R; Kersnik-Levart, Tanja T; Macioniene, Ernesta E; Miglinas, Marius M; Pawłowska, Anna A; Stompór, Tomasz T; Podracka, Ludmila L; Rudnicki, Michael M; Mayer, Gert G; Rysava, Romana R; Reiterova, Jana J; Saraga, Marijan M; Seeman, Tomáš T; Zieg, Jakub J; Sládková, Eva E; Szabó, Tamás T; Capitanescu, Andrei A; Stancu, Simona S; Tisljar, Miroslav M; Galesic, Kresimir K; Tislér, András A; Vainumäe, Inga I; Windpessl, Martin M; Zaoral, Tomas T; Zlatanova, Galia G; Csuka, Dorottya D
Publication Date: 2020-04

Variant appearance in text: C3a: K633R
PubMed Link: 32296528
Variant Present in the following documents:
  • sfz073_supplementary_data.pdf
View BVdb publication page



Analysis of C3 Gene Variants in Patients With Idiopathic Recurrent Spontaneous Pregnancy Loss.

Frontiers In Immunology
Mohlin, Frida C FC; Gros, Piet P; Mercier, Eric E; Gris, Jean-Christophe Raymond JR; Blom, Anna M AM
Publication Date: 2018

Variant appearance in text: C3b: 1898A>G; rs140655115
PubMed Link: 30131807
Variant Present in the following documents:
  • Main text
  • fimmu-09-01813.pdf
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: rs140655115
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Molecular Immunology
Geerlings, Maartje J MJ; de Jong, Eiko K EK; den Hollander, Anneke I AI
Publication Date: 2017-04

Variant appearance in text: C3b: Lys633Arg
PubMed Link: 27939104
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: rs140655115
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

The Embo Journal
Forneris, Federico F; Wu, Jin J; Xue, Xiaoguang X; Ricklin, Daniel D; Lin, Zhuoer Z; Sfyroera, Georgia G; Tzekou, Apostolia A; Volokhina, Elena E; Granneman, Joke Cm JC; Hauhart, Richard R; Bertram, Paula P; Liszewski, M Kathryn MK; Atkinson, John P JP; Lambris, John D JD; Gros, Piet P
Publication Date: 2016-05-17

Variant appearance in text: C3b: Lys633Arg
PubMed Link: 27013439
Variant Present in the following documents:
  • EMBJ-35-1133-s001.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs140655115
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



A novel method for direct measurement of complement convertases activity in human serum.

Clinical And Experimental Immunology
Blom, A M AM; Volokhina, E B EB; Fransson, V V; Strömberg, P P; Berghard, L L; Viktorelius, M M; Mollnes, T E TE; López-Trascasa, M M; van den Heuvel, L P LP; Goodship, T H TH; Marchbank, K J KJ; Okroj, M M
Publication Date: 2014-10

Variant appearance in text: C3b: Lys633Arg
PubMed Link: 24853370
Variant Present in the following documents:
  • Main text
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: rs140655115
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.

Blood
Moore, Iain I; Strain, Lisa L; Pappworth, Isabel I; Kavanagh, David D; Barlow, Paul N PN; Herbert, Andrew P AP; Schmidt, Christoph Q CQ; Staniforth, Scott J SJ; Holmes, Lucy V LV; Ward, Roy R; Morgan, Lynn L; Goodship, Timothy H J TH; Marchbank, Kevin J KJ
Publication Date: 2010-01-14

Variant appearance in text: C3b: 1898A>G
PubMed Link: 19861685
Variant Present in the following documents:
  • Main text
View BVdb publication page