Variant ID: 1-55527086-CA-GC

NM_174936.3(PCSK9):c.1720_1721delinsGC;(p.His574Ala)

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: H574A
PMID: 21771976
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1720_1721delinsGC p.His574Ala missense_variant 11/12 -
ENST00000490692.1 n.2266_2267delinsGC - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*267_*268delinsGC - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1720_1721delinsGC p.His574Ala missense_variant 11/12 -
NR_110451.1 n.1327_1328delinsGC - non_coding_transcript_exon_variant 9/10 -