CUBN c.3417A>C ;(p.L1139=)

Variant ID: 10-17088006-T-G

NM_001081.3(CUBN):c.3417A>C;(p.L1139=)

This variant was identified in 8 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: CUBN: L1139L; rs1801228
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: CUBN: L1139L; rs1801228
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
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: CUBN: L1139L; rs1801228
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: CUBN: L1139L; rs1801228
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



An integrative computational approach for prioritization of genomic variants.

Plos One
Dubchak, Inna I; Balasubramanian, Sandhya S; Wang, Sheng S; Cem, Meydan M; Meyden, Cem C; Sulakhe, Dinanath D; Poliakov, Alexander A; Börnigen, Daniela D; Xie, Bingqing B; Taylor, Andrew A; Ma, Jianzhu J; Paciorkowski, Alex R AR; Mirzaa, Ghayda M GM; Dave, Paul P; Agam, Gady G; Xu, Jinbo J; Al-Gazali, Lihadh L; Mason, Christopher E CE; Ross, M Elizabeth ME; Maltsev, Natalia N; Gilliam, T Conrad TC
Publication Date: 2014

Variant appearance in text: rs1801228
PubMed Link: 25506935
Variant Present in the following documents:
  • Main text
  • pone.0114903.pdf
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: CUBN: L1139L; rs1801228
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page



Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.

Bmc Medical Genetics
Pangilinan, Faith F; Molloy, Anne M AM; Mills, James L JL; Troendle, James F JF; Parle-McDermott, Anne A; Signore, Caroline C; O'Leary, Valerie B VB; Chines, Peter P; Seay, Jessica M JM; Geiler-Samerotte, Kerry K; Mitchell, Adam A; VanderMeer, Julia E JE; Krebs, Kristine M KM; Sanchez, Angelica A; Cornman-Homonoff, Joshua J; Stone, Nicole N; Conley, Mary M; Kirke, Peadar N PN; Shane, Barry B; Scott, John M JM; Brody, Lawrence C LC
Publication Date: 2012-08-02

Variant appearance in text: rs1801228
PubMed Link: 22856873
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-62.pdf
View BVdb publication page