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.




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