PCSK7 c.400_401delinsGA ;(p.R134E)

Variant ID: 11-117100160-CT-TC

NM_004716.2(PCSK7):c.400_401delinsGA;(p.R134E)

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:

Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG
Publication Date: 2012-09-28

Variant appearance in text: PC7: R134E
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page