VCAN c.348T>C ;(p.T116=)

Variant ID: 5-82786194-T-C

NM_004385.4(VCAN):c.348T>C;(p.T116=)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: VCAN: T116T; rs12332199
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: VCAN: 348T>C; Thr116Thr; rs12332199
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: VCAN: T116T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_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: VCAN: T116T
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
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: VCAN: 348T>C; T116T; rs12332199
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: VCAN: Thr116Thr; rs12332199
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.

Frontiers In Genetics
Passarelli, Chiara C; Selvatici, Rita R; Carrieri, Alberto A; Di Raimo, Francesca Romana FR; Falzarano, Maria Sofia MS; Fortunato, Fernanda F; Rossi, Rachele R; Straub, Volker V; Bushby, Katie K; Reza, Mojgan M; Zharaieva, Irina I; D'Amico, Adele A; Bertini, Enrico E; Merlini, Luciano L; Sabatelli, Patrizia P; Borgiani, Paola P; Novelli, Giuseppe G; Messina, Sonia S; Pane, Marika M; Mercuri, Eugenio E; Claustres, Mireille M; Tuffery-Giraud, Sylvie S; Aartsma-Rus, Annemieke A; Spitali, Pietro P; T'Hoen, Peter A C PAC; Lochmüller, Hanns H; Strandberg, Kristin K; Al-Khalili, Cristina C; Kotelnikova, Ekaterina E; Lebowitz, Michael M; Schwartz, Elena E; Muntoni, Francesco F; Scapoli, Chiara C; Ferlini, Alessandra A
Publication Date: 2020

Variant appearance in text: VCAN: 348T>C; Thr116=
PubMed Link: 32719714
Variant Present in the following documents:
  • Main text
  • fgene-11-00605.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: VCAN: 348T>C; Thr116=; rs12332199
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_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: VCAN: T116T; rs12332199
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_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



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: VCAN: 348T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: VCAN: 348T>C; rs12332199
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: VCAN: 348T>C; T116T; rs12332199
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 2
  • pone.0140684.s004.xlsx, sheet 5
  • pone.0140684.s004.xlsx, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: VCAN: T116T; rs12332199
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: VCAN: T116T; rs12332199
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



A family with Wagner syndrome with uveitis and a new versican mutation.

Molecular Vision
Rothschild, Pierre-Raphaël PR; Brézin, Antoine P AP; Nedelec, Brigitte B; Burin des Roziers, Cyril C; Ghiotti, Tiffany T; Orhant, Lucie L; Boimard, Mathieu M; Valleix, Sophie S
Publication Date: 2013

Variant appearance in text: VCAN: 348T>C; T116T; rs12332199
PubMed Link: 24174867
Variant Present in the following documents:
  • Main text
  • mv-v19-2040.pdf
View BVdb publication page



Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

Archives Of Ophthalmology (Chicago, Ill. : 1960)
Ronan, Shawn M SM; Tran-Viet, Khanh-Nhat KN; Burner, Erica L EL; Metlapally, Ravikanth R; Toth, Cynthia A CA; Young, Terri L TL
Publication Date: 2009-11

Variant appearance in text: CSPG2: 348T>C; rs12332199
PubMed Link: 19901218
Variant Present in the following documents:
  • Main text
View BVdb publication page