NPC1 c.1267_1268delinsGC ;(p.Y423A)

Variant ID: 18-21136265-TA-GC

NM_000271.4(NPC1):c.1267_1268delinsGC;(p.Y423A)

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:

Ebola Viral Glycoprotein Bound to Its Endosomal Receptor Niemann-Pick C1.

Cell
Wang, Han H; Shi, Yi Y; Song, Jian J; Qi, Jianxun J; Lu, Guangwen G; Yan, Jinghua J; Gao, George F GF
Publication Date: 2016-01-14

Variant appearance in text: NPC1: Y423A
PubMed Link: 26771495
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc2.pdf
View BVdb publication page