IRF4 c.849C>G ;(p.D283E)

Variant ID: 6-401527-C-G

NM_002460.3(IRF4):c.849C>G;(p.D283E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors.

Journal Of Translational Medicine
Wong, Kwong-Kwok KK; Bateman, Nicholas W NW; Ng, Chun Wai CW; Tsang, Yvonne T M YTM; Sun, Charlotte S CS; Celestino, Joseph J; Nguyen, Tri V TV; Malpica, Anais A; Hillman, R Tyler RT; Zhang, Jianhua J; Futreal, P Andrew PA; Rojas, Christine C; Conrads, Kelly A KA; Hood, Brian L BL; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Phippen, Neil T NT; Conrads, Thomas P TP; Maxwell, George L GL; Sood, Anil K AK; Gershenson, David M DM
Publication Date: 2022-12-17

Variant appearance in text: IRF4: Asp283Glu
PubMed Link: 36528667
Variant Present in the following documents:
  • 12967_2022_3820_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: rs114916515
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 10
  • pone.0194098.s003.xlsx, sheet 9
View BVdb publication page



IRF4 haploinsufficiency in a family with Whipple's disease.

Elife
Guérin, Antoine A; Kerner, Gaspard G; Marr, Nico N; Markle, Janet G JG; Fenollar, Florence F; Wong, Natalie N; Boughorbel, Sabri S; Avery, Danielle T DT; Ma, Cindy S CS; Bougarn, Salim S; Bouaziz, Matthieu M; Béziat, Vivien V; Della Mina, Erika E; Oleaga-Quintas, Carmen C; Lazarov, Tomi T; Worley, Lisa L; Nguyen, Tina T; Patin, Etienne E; Deswarte, Caroline C; Martinez-Barricarte, Rubén R; Boucherit, Soraya S; Ayral, Xavier X; Edouard, Sophie S; Boisson-Dupuis, Stéphanie S; Rattina, Vimel V; Bigio, Benedetta B; Vogt, Guillaume G; Geissmann, Frédéric F; Quintana-Murci, Lluis L; Chaussabel, Damien D; Tangye, Stuart G SG; Raoult, Didier D; Abel, Laurent L; Bustamante, Jacinta J; Casanova, Jean-Laurent JL
Publication Date: 2018-03-14

Variant appearance in text: rs114916515
PubMed Link: 29537367
Variant Present in the following documents:
  • elife-32340-fig2-data1.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: IRF4: D283E; rs114916515
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page