Variant ID: 1-55505709-TG-GC

NM_174936.3(PCSK9):c.199_200delinsGC;(p.Cys67Ala)

This variant was identified in 1 publication




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
S Benjannet, J Hamelin, M Chr├ętien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: C67A
PMID: 22875854
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.199_200delinsGC p.Cys67Ala missense_variant 1/12 -
ENST00000452118.2 c.199_200delinsGC p.Cys67Ala missense_variant 1/6 -
NM_174936.4 c.199_200delinsGC p.Cys67Ala missense_variant 1/12 -