Variant ID: 1-55505601-CAG-AAC

NM_174936.3(PCSK9):c.91_93delinsAAC;(p.Gln31Asn)

This variant was identified in 1 publication




Publications:


Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
Publication Date: 2016

Variant appearance in text: PCSK9: Q31N
PMID: 27280970
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.91_93delinsAAC p.Gln31Asn missense_variant 1/12 -
ENST00000452118.2 c.91_93delinsAAC p.Gln31Asn missense_variant 1/6 -
NM_174936.4 c.91_93delinsAAC p.Gln31Asn missense_variant 1/12 -
- - TF_binding_site_variant - -