Variant ID: 1-55525300-CGT-TGG


This variant was identified in 1 publication


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: R549W
PubMed Link: 33759783
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1645_1647delinsTGG p.Arg549Trp missense_variant 10/12 -
ENST00000490692.1 n.2227+980_2227+982delinsTGG - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*192_*194delinsTGG - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1645_1647delinsTGG p.Arg549Trp missense_variant 10/12 -
NR_110451.1 n.1252_1254delinsTGG - non_coding_transcript_exon_variant 8/10 -