TEK c.407G>T ;(p.G136V)

Variant ID: 9-27168535-G-T

NM_000459.3(TEK):c.407G>T;(p.G136V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.

Investigative Ophthalmology & Visual Science
Young, Terri L TL; Whisenhunt, Kristina N KN; Jin, Jing J; LaMartina, Sarah M SM; Martin, Sean M SM; Souma, Tomokazu T; Limviphuvadh, Vachiranee V; Suri, Fatemeh F; Souzeau, Emmanuelle E; Zhang, Xue X; Dan, Yongwook Y; Anagnos, Evie E; Carmona, Susana S; Jody, Nicole M NM; Stangel, Nickie N; Higuchi, Emily C EC; Huang, Samuel J SJ; Siggs, Owen M OM; Simões, Maria José MJ; Lawson, Brendan M BM; Martin, Jacob S JS; Elahi, Elahe E; Narooie-Nejad, Mehrnaz M; Motlagh, Behzad Fallahi BF; Quaggin, Susan E SE; Potter, Heather D HD; Silva, Eduardo D ED; Craig, Jamie E JE; Egas, Conceição C; Maroofian, Reza R; Maurer-Stroh, Sebastian S; Bradfield, Yasmin S YS; Tompson, Stuart W SW
Publication Date: 2020-10-01

Variant appearance in text: TEK: 407G>T
PubMed Link: 33027505
Variant Present in the following documents:
  • Main text
  • iovs-61-12-6_s002.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TEK: 407G>T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page