Variant ID: 1-55525252-AAC-CAA

NM_174936.3(PCSK9):c.1597_1599delinsCAA;(p.Asn533Gln)

This variant was identified in 1 publication



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

Publications:

The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR.

Traffic (Copenhagen, Denmark)
N Nassoury, DA Blasiole, A Tebon Oler, S Benjannet, J Hamelin, V Poupon, PS McPherson, AD Attie, A Prat, NG Seidah
Publication Date: 2007-06

Variant appearance in text: PCSK9: N533Q
PubMed Link: 17461796
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1597_1599delinsCAA p.Asn533Gln missense_variant 10/12 -
ENST00000490692.1 n.2227+932_2227+934delinsCAA - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*144_*146delinsCAA - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1597_1599delinsCAA p.Asn533Gln missense_variant 10/12 -
NR_110451.1 n.1204_1206delinsCAA - non_coding_transcript_exon_variant 8/10 -