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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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