Variant ID: 1-55521821-CG-AA

NM_174936.3(PCSK9):c.955_956delinsAA;(p.Arg319Lys)

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 ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry
CA Worby, JE Mayfield, AJ Pollak, JE Dixon, S Banerjee
Publication Date: 2021-01-08

Variant appearance in text: PCSK9: R319K
PubMed Link: 33759783
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.955_956delinsAA p.Arg319Lys missense_variant 6/12 -
ENST00000490692.1 n.1776_1777delinsAA - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.355_356delinsAA p.Arg119Lys missense_variant 4/10 -
NM_174936.4 c.955_956delinsAA p.Arg319Lys missense_variant 6/12 -
NR_110451.1 n.614_615delinsAA - non_coding_transcript_exon_variant 4/10 -