AKAP13 c.8044C>T ;(p.R2682W)

Variant ID: 15-86284712-C-T

NM_007200.4(AKAP13):c.8044C>T;(p.R2682W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: AKAP13: 8044C>T; R2682W
PubMed Link: 26487268
Variant Present in the following documents:
  • ncomms9666-s1.pdf
View BVdb publication page