Variant ID: 1-55529216-CG-GC

NM_174936.3(PCSK9):c.2038_2039delinsGC;(p.Arg680Ala)

This variant was identified in 1 publication




Publications:


Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

Journal Of Lipid Research
ØL Holla, J Cameron, K Tveten, TB Strøm, KE Berge, JK Laerdahl, TP Leren
Publication Date: 2011-10

Variant appearance in text: PCSK9: R680A
PMID: 21771976
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.2038_2039delinsGC p.Arg680Ala missense_variant 12/12 -
ENST00000490692.1 n.2584_2585delinsGC - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2038_2039delinsGC p.Arg680Ala missense_variant 12/12 -
NR_110451.1 n.1645_1646delinsGC - non_coding_transcript_exon_variant 10/10 -