CYBB c.1139G>A ;(p.W380*)

Variant ID: X-37663371-G-A

NM_000397.3(CYBB):c.1139G>A;(p.W380*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: CYBB: W380*
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

Journal Of Clinical Immunology
El Hawary, Rabab E RE; Meshaal, Safa S SS; Abd Elaziz, Dalia S DS; Alkady, Radwa R; Lotfy, Sohilla S; Eldash, Alia A; Erfan, Aya A; Chohayeb, Engy A EA; Saad, Mai M MM; Darwish, Rania K RK; Boutros, Jeannette A JA; Galal, Nermeen M NM; Elmarsafy, Aisha M AM
Publication Date: 2022-07

Variant appearance in text: CYBB: 1139G>A
PubMed Link: 35482138
Variant Present in the following documents:
  • Main text
  • 10875_2022_Article_1272.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CYBB: W380*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants.

Npj Genomic Medicine
Wang, Huijun H; Qian, Yanyan Y; Lu, Yulan Y; Qin, Qian Q; Lu, Guoping G; Cheng, Guoqiang G; Zhang, Ping P; Yang, Lin L; Wu, Bingbing B; Zhou, Wenhao W
Publication Date: 2020

Variant appearance in text: CYBB: 1139G>A; W380X
PubMed Link: 32411386
Variant Present in the following documents:
  • 41525_2020_129_MOESM1_ESM.pdf
View BVdb publication page



Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Nature Communications
Serra, Eva Gonçalves EG; Schwerd, Tobias T; Moutsianas, Loukas L; Cavounidis, Athena A; Fachal, Laura L; Pandey, Sumeet S; Kammermeier, Jochen J; Croft, Nicholas M NM; Posovszky, Carsten C; Rodrigues, Astor A; Russell, Richard K RK; Barakat, Farah F; Auth, Marcus K H MKH; Heuschkel, Robert R; Zilbauer, Matthias M; Fyderek, Krzysztof K; Braegger, Christian C; Travis, Simon P SP; Satsangi, Jack J; Parkes, Miles M; Thapar, Nikhil N; Ferry, Helen H; Matte, Julie C JC; Gilmour, Kimberly C KC; Wedrychowicz, Andrzej A; Sullivan, Peter P; Moore, Carmel C; Sambrook, Jennifer J; Ouwehand, Willem W; Roberts, David D; Danesh, John J; Baeumler, Toni A TA; Fulga, Tudor A TA; Karaminejadranjbar, Mohammad M; Ahmed, Ahmed A; Wilson, Rachel R; Barrett, Jeffrey C JC; Elkadri, Abdul A; Griffiths, Anne M AM; , ; , ; , ; , ; , ; , ; Snapper, Scott B SB; Shah, Neil N; Muise, Aleixo M AM; Wilson, David C DC; Uhlig, Holm H HH; Anderson, Carl A CA
Publication Date: 2020-02-21

Variant appearance in text: CYBB: W380X
PubMed Link: 32081864
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_14275.pdf
  • 41467_2019_14275_MOESM2_ESM.pdf
View BVdb publication page



Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Nature Communications
Serra, Eva Gonçalves EG; Schwerd, Tobias T; Moutsianas, Loukas L; Cavounidis, Athena A; Fachal, Laura L; Pandey, Sumeet S; Kammermeier, Jochen J; Croft, Nicholas M NM; Posovszky, Carsten C; Rodrigues, Astor A; Russell, Richard K RK; Barakat, Farah F; Auth, Marcus K H MKH; Heuschkel, Robert R; Zilbauer, Matthias M; Fyderek, Krzysztof K; Braegger, Christian C; Travis, Simon P SP; Satsangi, Jack J; Parkes, Miles M; Thapar, Nikhil N; Ferry, Helen H; Matte, Julie C JC; Gilmour, Kimberly C KC; Wedrychowicz, Andrzej A; Sullivan, Peter P; Moore, Carmel C; Sambrook, Jennifer J; Ouwehand, Willem W; Roberts, David D; Danesh, John J; Baeumler, Toni A TA; Fulga, Tudor A TA; Carrami, Eli M EM; Ahmed, Ahmed A; Wilson, Rachel R; Barrett, Jeffrey C JC; Elkadri, Abdul A; Griffiths, Anne M AM; , ; , ; , ; , ; , ; , ; Snapper, Scott B SB; Shah, Neil N; Muise, Aleixo M AM; Wilson, David C DC; Uhlig, Holm H HH; Anderson, Carl A CA
Publication Date: 2020-02-21

Variant appearance in text: CYBB: W380X
PubMed Link: 32081864
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_14275.pdf
  • 41467_2019_14275_MOESM2_ESM.pdf
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: CYBB: W380*
PubMed Link: 28153049
Variant Present in the following documents:
  • 13073_2017_401_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Methylotroph Infections and Chronic Granulomatous Disease.

Emerging Infectious Diseases
Falcone, E Liana EL; Petts, Jennifer R JR; Fasano, Mary Beth MB; Ford, Bradley B; Nauseef, William M WM; Neves, João Farela JF; Simões, Maria João MJ; Tierce, Millard L ML; de la Morena, M Teresa MT; Greenberg, David E DE; Zerbe, Christa S CS; Zelazny, Adrian M AM; Holland, Steven M SM
Publication Date: 2016-03

Variant appearance in text: CYBB: 1139G>A
PubMed Link: 26886412
Variant Present in the following documents:
  • Main text
  • 15-1265.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: CYBB: W380*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



The integrated landscape of driver genomic alterations in glioblastoma.

Nature Genetics
Frattini, Veronique V; Trifonov, Vladimir V; Chan, Joseph Minhow JM; Castano, Angelica A; Lia, Marie M; Abate, Francesco F; Keir, Stephen T ST; Ji, Alan X AX; Zoppoli, Pietro P; Niola, Francesco F; Danussi, Carla C; Dolgalev, Igor I; Porrati, Paola P; Pellegatta, Serena S; Heguy, Adriana A; Gupta, Gaurav G; Pisapia, David J DJ; Canoll, Peter P; Bruce, Jeffrey N JN; McLendon, Roger E RE; Yan, Hai H; Aldape, Ken K; Finocchiaro, Gaetano G; Mikkelsen, Tom T; Privé, Gilbert G GG; Bigner, Darell D DD; Lasorella, Anna A; Rabadan, Raul R; Iavarone, Antonio A
Publication Date: 2013-10

Variant appearance in text: CYBB: W380*
PubMed Link: 23917401
Variant Present in the following documents:
  • NIHMS510851-supplement-3.xlsx, sheet 1
View BVdb publication page



Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI
Publication Date: 2010-10-15

Variant appearance in text: CGD: 1139G>A
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page