NPC1 c.1507_1508delinsGC ;(p.F503A)

Variant ID: 18-21134767-AA-GC

NM_000271.4(NPC1):c.1507_1508delinsGC;(p.F503A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Li, Xiaochun X; Saha, Piyali P; Li, Jian J; Blobel, Günter G; Pfeffer, Suzanne R SR
Publication Date: 2016-09-06

Variant appearance in text: NPC1: F503A
PubMed Link: 27551080
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Single Residue in Ebola Virus Receptor NPC1 Influences Cellular Host Range in Reptiles.

Msphere
Ndungo, Esther E; Herbert, Andrew S AS; Raaben, Matthijs M; Obernosterer, Gregor G; Biswas, Rohan R; Miller, Emily Happy EH; Wirchnianski, Ariel S AS; Carette, Jan E JE; Brummelkamp, Thijn R TR; Whelan, Sean P SP; Dye, John M JM; Chandran, Kartik K
Publication Date: 2016

Variant appearance in text: NPC1: F503A
PubMed Link: 27303731
Variant Present in the following documents:
  • mSphere.00007-16.pdf
View BVdb publication page



Ebola Viral Glycoprotein Bound to Its Endosomal Receptor Niemann-Pick C1.

Cell
Wang, Han H; Shi, Yi Y; Song, Jian J; Qi, Jianxun J; Lu, Guangwen G; Yan, Jinghua J; Gao, George F GF
Publication Date: 2016-01-14

Variant appearance in text: NPC1: F503A
PubMed Link: 26771495
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc2.pdf
View BVdb publication page