NPC1 c.527T>A ;(p.L176Q)

Variant ID: 18-21141428-A-T

NM_000271.4(NPC1):c.527T>A;(p.L176Q)

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:

Simulations of NPC1(NTD):NPC2 Protein Complex Reveal Cholesterol Transfer Pathways.

International Journal Of Molecular Sciences
Hodošček, Milan M; Elghobashi-Meinhardt, Nadia N
Publication Date: 2018-09-04

Variant appearance in text: NPC1: L176Q
PubMed Link: 30181526
Variant Present in the following documents:
  • Main text
  • ijms-19-02623.pdf
View BVdb publication page