PCSK9 c.931_932delinsAC ;(p.L311T)

Variant ID: 1-55521797-CT-AC

NM_174936.3(PCSK9):c.931_932delinsAC;(p.L311T)

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:

AAV vectors expressing LDLR gain-of-function variants demonstrate increased efficacy in mouse models of familial hypercholesterolemia.

Circulation Research
Somanathan, Suryanarayan S; Jacobs, Frank F; Wang, Qiang Q; Hanlon, Alexandra L AL; Wilson, James M JM; Rader, Daniel J DJ
Publication Date: 2014-08-29

Variant appearance in text: PCSK9: L311T
PubMed Link: 25023731
Variant Present in the following documents:
  • Main text
View BVdb publication page