C4BPA c.1268G>A ;(p.G423E)

Variant ID: 1-207307932-G-A

NM_000715.3(C4BPA):c.1268G>A;(p.G423E)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: C4BPA: G423E
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 3
View BVdb publication page



Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Frontiers In Immunology
Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH
Publication Date: 2022

Variant appearance in text: C4BPA: G423E; rs116700161
PubMed Link: 36268024
Variant Present in the following documents:
  • Table_1.xlsx, sheet 3
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: C4BPA: 1268G>A; Gly423Glu; rs116700161
PubMed Link: 35511137
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: C4BPA: 1268G>A; rs116700161
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: C4BPA: 1268G>A; G423E
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
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: C4BPA: G423E; rs116700161
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: C4BPA: 1268G>A; G423E; rs116700161
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.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: C4BPA: G423E; rs116700161
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: C4BPA: 1268G>A; G423E; rs116700161
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
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: C4BPA: G423E; rs116700161
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 4
  • pgen.1004772.s004.xlsx, sheet 34
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: C4BPA: G423E; rs116700161
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Analysis of genes coding for CD46, CD55, and C4b-binding protein in patients with idiopathic, recurrent, spontaneous pregnancy loss.

European Journal Of Immunology
Mohlin, Frida C FC; Mercier, Eric E; Fremeaux-Bacchi, Veronique V; Liszewski, M Kathryn MK; Atkinson, John P JP; Gris, Jean-Christophe JC; Blom, Anna M AM
Publication Date: 2013-06

Variant appearance in text: C4BPA: 1268G>A; G423E; rs116700161
PubMed Link: 23508668
Variant Present in the following documents:
  • Main text
View BVdb publication page