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NPC1 c.572A>C ;(p.E191A)
Variant ID: 18-21141383-T-G
NM_000271.4(
NPC1
):c.572A>C;(p.E191A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol.
Cell
Kwon, Hyock Joo HJ; Abi-Mosleh, Lina L; Wang, Michael L ML; Deisenhofer, Johann J; Goldstein, Joseph L JL; Brown, Michael S MS; Infante, Rodney E RE
Publication Date: 2009-06-26
Variant appearance in text: NPC1: E191A
PubMed Link:
19563754
Variant Present in the following documents:
Main text
View BVdb publication page