PCSK7 c.776_777delinsAT ;(p.R259H)

Variant ID: 11-117096730-CC-AT

NM_004716.2(PCSK7):c.776_777delinsAT;(p.R259H)

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:

Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning.

The Journal Of Biological Chemistry
Eckey, Karina K; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Pott, Lutz L; Schmitt, Nicole N; Seebohm, Guiscard G
Publication Date: 2014-08-15

Variant appearance in text: LPC: R259H
PubMed Link: 24947509
Variant Present in the following documents:
  • Main text
View BVdb publication page