ANXA11 c.688C>T ;(p.R230C)

Variant ID: 10-81926702-G-A

NM_145868.1(ANXA11):c.688C>T;(p.R230C)

This variant was identified in 84 publications

View GRCh38 version.




Publications:


Sex differences in the genetics of sarcoidosis across European and African ancestry populations.

Frontiers In Medicine
Xiong, Ying Y; Kullberg, Susanna S; Garman, Lori L; Pezant, Nathan N; Ellinghaus, David D; Vasila, Vasiliki V; Eklund, Anders A; Rybicki, Benjamin A BA; Iannuzzi, Michael C MC; Schreiber, Stefan S; Müller-Quernheim, Joachim J; Montgomery, Courtney G CG; Grunewald, Johan J; Padyukov, Leonid L; Rivera, Natalia V NV
Publication Date: 2023

Variant appearance in text: rs1049550
PubMed Link: 37250650
Variant Present in the following documents:
  • Main text
  • fmed-10-1132799.pdf
View BVdb publication page



From Karl Wurm and Guy Scadding's staging to 18F-FDG PET/CT scan phenotyping and far beyond: perspective in the evading history of phenotyping in sarcoidosis.

Frontiers In Medicine
Papiris, Spyros A SA; Kolilekas, Lykourgos L; Rivera, Natalia N; Spanos, Michail M; Li, Guoping G; Gokulnath, Priyanka P; Chatterjee, Emeli E; Georgakopoulos, Alexandros A; Kallieri, Maria M; Papaioannou, Andriana I AI; Raptakis, Thomas T; Apollonatou, Vasiliki V; Antonogiannaki, Elvira-Markela EM; Gialafos, Elias E; Chatziioannou, Sofia S; Grunewald, Johan J; Manali, Effrosyni D ED
Publication Date: 2023

Variant appearance in text: rs1049550
PubMed Link: 37234239
Variant Present in the following documents:
  • Main text
  • fmed-10-1174518.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ANXA11: R230C
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Immune mechanisms in fibrotic pulmonary sarcoidosis.

European Respiratory Review : An Official Journal Of The European Respiratory Society
Weeratunga, Praveen P; Moller, David R DR; Ho, Ling-Pei LP
Publication Date: 2022-12-31

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 36543347
Variant Present in the following documents:
  • Main text
  • ERR-0178-2022.pdf
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: ANXA11: 688C>T; Arg230Cys; rs1049550
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs1049550
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs1049550
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Exome Sequencing Reveals Genetic Variability and Identifies Chronic Prognostic Loci in Chinese Sarcoidosis Patients.

Frontiers In Oncology
Zhang, Qian Q; Huang, Hui H; Zhang, Meijun M; Fang, Chuling C; Wang, Na N; Jing, Xiaoyan X; Guo, Jian J; Sun, Wei W; Yang, Xiaoyu X; Xu, Zuojun Z
Publication Date: 2022

Variant appearance in text: rs1049550
PubMed Link: 35860586
Variant Present in the following documents:
  • fonc-12-910227.pdf
View BVdb publication page



ANXA11 rs1049550 Associates with Löfgren's Syndrome and Chronic Sarcoidosis Patients.

Cells
Karakaya, Bekir B; van der Vis, Joanne J JJ; Veltkamp, Marcel M; Biesma, Douwe H DH; Grutters, Jan C JC; van Moorsel, Coline H M CHM
Publication Date: 2022-05-05

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 35563867
Variant Present in the following documents:
  • Main text
  • cells-11-01557.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: ANXA11: R230C
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: ANXA11: R230C
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 9
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Epigenetics and sarcoidosis.

European Respiratory Review : An Official Journal Of The European Respiratory Society
Konigsberg, Iain R IR; Maier, Lisa A LA; Yang, Ivana V IV
Publication Date: 2021-06-30

Variant appearance in text: ANXA11: R230C
PubMed Link: 34168064
Variant Present in the following documents:
  • ERR-0076-2021.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ANXA11: 688C>T; R230C; rs1049550
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: ANXA11: 688C>T; Arg230Cys; rs1049550
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.

Frontiers In Immunology
Takeuchi, Masaki M; Mizuki, Nobuhisa N; Ohno, Shigeaki S
Publication Date: 2021

Variant appearance in text: ANXA11: R230C
PubMed Link: 33912164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of single nucleotide polymorphisms in chronic beryllium disease.

Respiratory Research
Frye, Björn C BC; Gaede, Karoline I KI; Saltini, Cesare C; Rossman, Milton D MD; Monos, Dimitri S DS; Rosenman, Ken D KD; Schuler, Christine R CR; Weston, Ainsley A; Wegner, Ralf R; Noth, Rainer R; Zissel, Gernot G; Schreiber, Stefan S; Nothnagel, Michael M; Müller-Quernheim, Joachim J
Publication Date: 2021-04-16

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 33863318
Variant Present in the following documents:
  • Main text
  • 12931_2021_Article_1691.pdf
View BVdb publication page



Annexin Animal Models-From Fundamental Principles to Translational Research.

International Journal Of Molecular Sciences
Grewal, Thomas T; Rentero, Carles C; Enrich, Carlos C; Wahba, Mohamed M; Raabe, Carsten A CA; Rescher, Ursula U
Publication Date: 2021-03-26

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 33810523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ANXA11: Arg230Cys; rs1049550
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: ANXA11: 688C>T; R230C; rs1049550
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications
Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M
Publication Date: 2021-02-23

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 33623049
Variant Present in the following documents:
  • 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: ANXA11: 688C>T; R230C; rs1049550
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: ANXA11: R230C
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.

Communications Biology
Meguro, Akira A; Ishihara, Mami M; Petrek, Martin M; Yamamoto, Ken K; Takeuchi, Masaki M; Mrazek, Frantisek F; Kolek, Vitezslav V; Benicka, Alzbeta A; Yamane, Takahiro T; Shibuya, Etsuko E; Yoshino, Atsushi A; Isomoto, Akiko A; Ota, Masao M; Yatsu, Keisuke K; Shijubo, Noriharu N; Nagai, Sonoko S; Yamaguchi, Etsuro E; Yamaguchi, Tetsuo T; Namba, Kenichi K; Kaburaki, Toshikatsu T; Takase, Hiroshi H; Morimoto, Shin-Ichiro SI; Hori, Junko J; Kono, Keiko K; Goto, Hiroshi H; Suda, Takafumi T; Ikushima, Soichiro S; Ando, Yasutaka Y; Takenaka, Shinobu S; Takeuchi, Masaru M; Yuasa, Takenosuke T; Sugisaki, Katsunori K; Ohguro, Nobuyuki N; Hiraoka, Miki M; Kitaichi, Nobuyoshi N; Sugiyama, Yukihiko Y; Horita, Nobuyuki N; Asukata, Yuri Y; Kawagoe, Tatsukata T; Kimura, Ikuko I; Ishido, Mizuho M; Inoko, Hidetoshi H; Mochizuki, Manabu M; Ohno, Shigeaki S; Bahram, Seiamak S; Remmers, Elaine F EF; Kastner, Daniel L DL; Mizuki, Nobuhisa N
Publication Date: 2020-08-21

Variant appearance in text: rs1049550
PubMed Link: 32826979
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts.

Journal Of Clinical Medicine
Calender, Alain A; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y
Publication Date: 2020-08-13

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 32823753
Variant Present in the following documents:
  • Main text
  • jcm-09-02633.pdf
View BVdb publication page



Bibliometrics Analysis of Butyrophilins as Immune Regulators [1992-2019] and Implications for Cancer Prognosis.

Frontiers In Immunology
Wang, Yixi Y; Zhao, Na N; Zhang, Xianwen X; Li, Zhenhua Z; Liang, Zheng Z; Yang, Jinrong J; Liu, Xingyu X; Wu, Yangzhe Y; Chen, Kebing K; Gao, Yunfei Y; Yin, Zhinan Z; Lin, Xuejia X; Zhou, Haibo H; Tian, Dongbo D; Cao, Yang Y; Hao, Jianlei J
Publication Date: 2020

Variant appearance in text: ANXA11: R230C
PubMed Link: 32695099
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.

International Journal Of Molecular Sciences
Lazo, Pedro A PA; García, Juan L JL; Gómez-Puertas, Paulino P; Marcos-Alcalde, Íñigo Í; Arjona, Cesar C; Villarroel, Alvaro A; González-Sarmiento, Rogelio R; Fons, Carmen C
Publication Date: 2020-06-23

Variant appearance in text: rs1049550
PubMed Link: 32585800
Variant Present in the following documents:
  • ijms-21-04447-s001.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1049550
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: ANXA11: R230C
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: ANXA11: R230C
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs1049550
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1049550
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: ANXA11: R230C
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.

Neurology. Genetics
Zhang, Kang K; Liu, Qing Q; Liu, Keqiang K; Shen, Dongchao D; Tai, Hongfei H; Shu, Shi S; Ding, Qingyun Q; Fu, Hanhui H; Liu, Shuangwu S; Wang, Zhili Z; Li, Xiaoguang X; Liu, Mingsheng M; Zhang, Xue X; Cui, Liying L
Publication Date: 2018-06

Variant appearance in text: ANXA11: 688C>T; R230C; rs1049550
PubMed Link: 29845112
Variant Present in the following documents:
  • Main text
  • NG2018007351.pdf
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: ANXA11: 688C>T; Arg230Cys; rs1049550
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis.

Molecular Vision
Davoudi, Samaneh S; Chang, Victoria S VS; Navarro-Gomez, Daniel D; Stanwyck, Lynn K LK; Sevgi, Damla Duriye DD; Papavasileiou, Evangelia E; Ren, Aiai A; Uchiyama, Eduardo E; Sullivan, Lynn L; Lobo, Ann-Marie AM; Papaliodis, George N GN; Sobrin, Lucia L
Publication Date: 2018

Variant appearance in text: rs1049550
PubMed Link: 29416296
Variant Present in the following documents:
  • Main text
  • mv-v24-59.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1049550
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One
Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2017

Variant appearance in text: ANXA11: 688C>T; Arg230Cys
PubMed Link: 28472130
Variant Present in the following documents:
  • pone.0176516.s002.xlsx, sheet 1
View BVdb publication page



Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Science Translational Medicine
Smith, Bradley N BN; Topp, Simon D SD; Fallini, Claudia C; Shibata, Hideki H; Chen, Han-Jou HJ; Troakes, Claire C; King, Andrew A; Ticozzi, Nicola N; Kenna, Kevin P KP; Soragia-Gkazi, Athina A; Miller, Jack W JW; Sato, Akane A; Dias, Diana Marques DM; Jeon, Maryangel M; Vance, Caroline C; Wong, Chun Hao CH; de Majo, Martina M; Kattuah, Wejdan W; Mitchell, Jacqueline C JC; Scotter, Emma L EL; Parkin, Nicholas W NW; Sapp, Peter C PC; Nolan, Matthew M; Nestor, Peter J PJ; Simpson, Michael M; Weale, Michael M; Lek, Monkel M; Baas, Frank F; Vianney de Jong, J M JM; Ten Asbroek, Anneloor L M A ALMA; Redondo, Alberto Garcia AG; Esteban-Pérez, Jesús J; Tiloca, Cinzia C; Verde, Federico F; Duga, Stefano S; Leigh, Nigel N; Pall, Hardev H; Morrison, Karen E KE; Al-Chalabi, Ammar A; Shaw, Pamela J PJ; Kirby, Janine J; Turner, Martin R MR; Talbot, Kevin K; Hardiman, Orla O; Glass, Jonathan D JD; De Belleroche, Jacqueline J; Maki, Masatoshi M; Moss, Stephen E SE; Miller, Christopher C; Gellera, Cinzia C; Ratti, Antonia A; Al-Sarraj, Safa S; Brown, Robert H RH; Silani, Vincenzo V; Landers, John E JE; Shaw, Christopher E CE
Publication Date: 2017-05-03

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 28469040
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: ANXA11: R230C
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
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: rs1049550
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Plos One
Mahmood, A S M Ashique AS; Wu, Tsung-Jung TJ; Mazumder, Raja R; Vijay-Shanker, K K
Publication Date: 2016

Variant appearance in text: rs1049550
PubMed Link: 27073839
Variant Present in the following documents:
  • pone.0152725.s001.xlsx, sheet 1
View BVdb publication page



Annexins family: insights into their functions and potential role in pathogenesis of sarcoidosis.

Journal Of Translational Medicine
Mirsaeidi, Mehdi M; Gidfar, Sanaz S; Vu, Ann A; Schraufnagel, Dean D
Publication Date: 2016-04-12

Variant appearance in text: ANXA11: R230C; rs1049550
PubMed Link: 27071553
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_843.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1049550
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.

American Journal Of Respiratory And Critical Care Medicine
Rivera, Natalia V NV; Ronninger, Marcus M; Shchetynsky, Klementy K; Franke, Andre A; Nöthen, Markus M MM; Müller-Quernheim, Joachim J; Schreiber, Stefan S; Adrianto, Indra I; Karakaya, Bekir B; van Moorsel, Coline H M CH; Navratilova, Zdenka Z; Kolek, Vitezslav V; Rybicki, Benjamin A BA; Iannuzzi, Michael C MC; Petrek, Martin M; Grutters, Jan C JC; Montgomery, Courtney C; Fischer, Annegret A; Eklund, Anders A; Padyukov, Leonid L; Grunewald, Johan J
Publication Date: 2016-05-01

Variant appearance in text: rs1049550
PubMed Link: 26651848
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying Novel Biomarkers in Sarcoidosis Using Genome-Based Approaches.

Clinics In Chest Medicine
Casanova, Nancy N; Zhou, Tong T; Knox, Kenneth S KS; Garcia, Joe G N JGN
Publication Date: 2015-12

Variant appearance in text: rs1049550
PubMed Link: 26593137
Variant Present in the following documents:
  • Main text
View BVdb publication page