CTCF c.*29T>G

Variant ID: 16-67671804-T-G

NM_006565.3(CTCF):c.*29T>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.

Frontiers In Molecular Neuroscience
Price, Emma E; Fedida, Liron M LM; Pugacheva, Elena M EM; Ji, Yon J YJ; Loukinov, Dmitri D; Lobanenkov, Victor V VV
Publication Date: 2023

Variant appearance in text: rs6499137
PubMed Link: 37324587
Variant Present in the following documents:
  • Main text
  • fnmol-16-1185796.pdf
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: rs6499137
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.

Annals Of The Rheumatic Diseases
Imgenberg-Kreuz, Juliana J; Carlsson Almlöf, Jonas J; Leonard, Dag D; Alexsson, Andrei A; Nordmark, Gunnel G; Eloranta, Maija-Leena ML; Rantapää-Dahlqvist, Solbritt S; Bengtsson, Anders A AA; Jönsen, Andreas A; Padyukov, Leonid L; Gunnarsson, Iva I; Svenungsson, Elisabet E; Sjöwall, Christopher C; Rönnblom, Lars L; Syvänen, Ann-Christine AC; Sandling, Johanna K JK
Publication Date: 2018-05

Variant appearance in text: rs6499137
PubMed Link: 29437559
Variant Present in the following documents:
  • annrheumdis-2017-212379supp016.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: rs6499137
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Testing for genetic associations in arbitrarily structured populations.

Nature Genetics
Song, Minsun M; Hao, Wei W; Storey, John D JD
Publication Date: 2015-05

Variant appearance in text: rs6499137
PubMed Link: 25822090
Variant Present in the following documents:
  • NIHMS664591-supplement-1.pdf
View BVdb publication page



Integrated pathway-based approach identifies association between genomic regions at CTCF and CACNB2 and schizophrenia.

Plos Genetics
Juraeva, Dilafruz D; Haenisch, Britta B; Zapatka, Marc M; Frank, Josef J; , ; , ; Witt, Stephanie H SH; Mühleisen, Thomas W TW; Treutlein, Jens J; Strohmaier, Jana J; Meier, Sandra S; Degenhardt, Franziska F; Giegling, Ina I; Ripke, Stephan S; Leber, Markus M; Lange, Christoph C; Schulze, Thomas G TG; Mössner, Rainald R; Nenadic, Igor I; Sauer, Heinrich H; Rujescu, Dan D; Maier, Wolfgang W; Børglum, Anders A; Ophoff, Roel R; Cichon, Sven S; Nöthen, Markus M MM; Rietschel, Marcella M; Mattheisen, Manuel M; Brors, Benedikt B
Publication Date: 2014-06

Variant appearance in text: rs6499137
PubMed Link: 24901509
Variant Present in the following documents:
  • Main text
  • pgen.1004345.pdf
View BVdb publication page



High frequency strand slippage mutations in CTCF in MSI-positive endometrial cancers.

Human Mutation
Zighelboim, Israel I; Mutch, David G DG; Knapp, Amy A; Ding, Li L; Xie, Mingchao M; Cohn, David E DE; Goodfellow, Paul J PJ
Publication Date: 2014-01

Variant appearance in text: rs6499137
PubMed Link: 24130125
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mixed-model approach for genome-wide association studies of correlated traits in structured populations.

Nature Genetics
Korte, Arthur A; Vilhjálmsson, Bjarni J BJ; Segura, Vincent V; Platt, Alexander A; Long, Quan Q; Nordborg, Magnus M
Publication Date: 2012-09

Variant appearance in text: rs6499137
PubMed Link: 22902788
Variant Present in the following documents:
  • NIHMS392993-supplement-1.pdf
View BVdb publication page