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PC c.553_555delinsCAA ;(p.N185Q)
Variant ID: 11-66638601-GTT-TTG
NM_001040716.1(
PC
):c.553_555delinsCAA;(p.N185Q)
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: PC: N185Q
PubMed Link:
19563754
Variant Present in the following documents:
Main text
View BVdb publication page