XPO5 c.3333A>G ;(p.I1111M)

Variant ID: 6-43492353-T-C

NM_020750.2(XPO5):c.3333A>G;(p.I1111M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.

Acta Neuropathologica
Li, Bryan K BK; Vasiljevic, Alexandre A; Dufour, Christelle C; Yao, Fupan F; Ho, Ben L B BLB; Lu, Mei M; Hwang, Eugene I EI; Gururangan, Sridharan S; Hansford, Jordan R JR; Fouladi, Maryam M; Nobusawa, Sumihito S; Laquerriere, Annie A; Delisle, Marie-Bernadette MB; Fangusaro, Jason J; Forest, Fabien F; Toledano, Helen H; Solano-Paez, Palma P; Leary, Sarah S; Birks, Diane D; Hoffman, Lindsey M LM; Szathmari, Alexandru A; Faure-Conter, Cécile C; Fan, Xing X; Catchpoole, Daniel D; Zhou, Li L; Schultz, Kris Ann P KAP; Ichimura, Koichi K; Gauchotte, Guillaume G; Jabado, Nada N; Jones, Chris C; Loussouarn, Delphine D; Mokhtari, Karima K; Rousseau, Audrey A; Ziegler, David S DS; Tanaka, Shinya S; Pomeroy, Scott L SL; Gajjar, Amar A; Ramaswamy, Vijay V; Hawkins, Cynthia C; Grundy, Richard G RG; Hill, D Ashley DA; Bouffet, Eric E; Huang, Annie A; Jouvet, Anne A
Publication Date: 2020-02

Variant appearance in text: XPO5: I1111M
PubMed Link: 31820118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Nature Communications
Bizet, Albane A AA; Becker-Heck, Anita A; Ryan, Rebecca R; Weber, Kristina K; Filhol, Emilie E; Krug, Pauline P; Halbritter, Jan J; Delous, Marion M; Lasbennes, Marie-Christine MC; Linghu, Bolan B; Oakeley, Edward J EJ; Zarhrate, Mohammed M; Nitschké, Patrick P; Garfa-Traore, Meriem M; Serluca, Fabrizio F; Yang, Fan F; Bouwmeester, Tewis T; Pinson, Lucile L; Cassuto, Elisabeth E; Dubot, Philippe P; Elshakhs, Neveen A Soliman NAS; Sahel, José A JA; Salomon, Rémi R; Drummond, Iain A IA; Gubler, Marie-Claire MC; Antignac, Corinne C; Chibout, Salahdine S; Szustakowski, Joseph D JD; Hildebrandt, Friedhelm F; Lorentzen, Esben E; Sailer, Andreas W AW; Benmerah, Alexandre A; Saint-Mezard, Pierre P; Saunier, Sophie S
Publication Date: 2015-10-21

Variant appearance in text: XPO5: 3333A>G; I1111M; rs112085617
PubMed Link: 26487268
Variant Present in the following documents:
  • ncomms9666-s1.pdf
View BVdb publication page