VPS13A c.9016_9017delinsCA ;(p.V3006Q)

Variant ID: 9-79986004-GT-CA

NM_033305.2(VPS13A):c.9016_9017delinsCA;(p.V3006Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites.

The Journal Of Cell Biology
Kumar, Nikit N; Leonzino, Marianna M; Hancock-Cerutti, William W; Horenkamp, Florian A FA; Li, PeiQi P; Lees, Joshua A JA; Wheeler, Heather H; Reinisch, Karin M KM; De Camilli, Pietro P
Publication Date: 2018-10-01

Variant appearance in text: VPS13A: V3006Q
PubMed Link: 30093493
Variant Present in the following documents:
  • Main text
  • JCB_201807019.pdf
View BVdb publication page