Variant ID: 1-55505571-CTG-TGT

NM_174936.3(PCSK9):c.61_63delinsTGT;(p.Leu21Cys)

This variant was identified in 1 publication




Publications:


Engineering of a GLP-1 analogue peptide/anti-PCSK9 antibody fusion for type 2 diabetes treatment.

Scientific Reports
M Chodorge, AJ Celeste, J Grimsby, A Konkar, P Davidsson, D Fairman, L Jenkinson, J Naylor, N White, JC Seaman, K Dickson, B Kemp, J Spooner, E Rossy, DC Hornigold, JL Trevaskis, NJ Bond, TB London, A Buchanan, T Vaughan, CM Rondinone, JK Osbourn
Publication Date: 2018-12-03

Variant appearance in text: PCSK9: L21C
PMID: 30510163
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.61_63delinsTGT p.Leu21Cys missense_variant 1/12 -
ENST00000452118.2 c.61_63delinsTGT p.Leu21Cys missense_variant 1/6 -
NM_174936.4 c.61_63delinsTGT p.Leu21Cys missense_variant 1/12 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -