Variant ID: 1-55525183-CGG-TGT

NM_174936.3(PCSK9):c.1528_1530delinsTGT;(p.Arg510Cys)

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: R510C
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.1528_1530delinsTGT p.Arg510Cys missense_variant 10/12 -
ENST00000490692.1 n.2227+863_2227+865delinsTGT - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*75_*77delinsTGT - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1528_1530delinsTGT p.Arg510Cys missense_variant 10/12 -
NR_110451.1 n.1135_1137delinsTGT - non_coding_transcript_exon_variant 8/10 -