NPC1 c.196_197delinsGC ;(p.F66A)

Variant ID: 18-21152128-AA-GC

NM_000271.4(NPC1):c.196_197delinsGC;(p.F66A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ohgami, Nobutaka N; Ko, Dennis C DC; Thomas, Matthew M; Scott, Matthew P MP; Chang, Catherine C Y CC; Chang, Ta-Yuan TY
Publication Date: 2004-08-24

Variant appearance in text: NPC1: F66A
PubMed Link: 15314240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Friedland, Natalia N; Liou, Heng-Ling HL; Lobel, Peter P; Stock, Ann M AM
Publication Date: 2003-03-04

Variant appearance in text: NPC1: F66A
PubMed Link: 12591954
Variant Present in the following documents:
  • Main text
View BVdb publication page



The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ko, Dennis C DC; Binkley, Jonathan J; Sidow, Arend A; Scott, Matthew P MP
Publication Date: 2003-03-04

Variant appearance in text: NPC1: F66A
PubMed Link: 12591949
Variant Present in the following documents:
  • Main text
View BVdb publication page