Variant ID: 1-55525324-CA-GC

NM_174936.3(PCSK9):c.1669_1670delinsGC;(p.His557Ala)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

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: H557A
PMID: 21771976
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1669_1670delinsGC p.His557Ala missense_variant 10/12 -
ENST00000490692.1 n.2227+1004_2227+1005delinsGC - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*216_*217delinsGC - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1669_1670delinsGC p.His557Ala missense_variant 10/12 -
NR_110451.1 n.1276_1277delinsGC - non_coding_transcript_exon_variant 8/10 -