Variant ID: 1-55527051-G-A

NM_174936.3(PCSK9):c.1685G>A;(p.Cys562Tyr)

This variant was identified in 1 publication




Publications:


Patterns and tempo of PCSK9 pseudogenizations suggest an ancient divergence in mammalian cholesterol homeostasis mechanisms.

Genetica
B van Asch, LF Teixeira da Costa
Publication Date: 2021-01-30

Variant appearance in text: PCSK9: C562Y
PubMed Link: 33515402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1685G>A p.Cys562Tyr missense_variant 11/12 -
ENST00000490692.1 n.2231G>A - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*232G>A - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1685G>A p.Cys562Tyr missense_variant 11/12 -
NR_110451.1 n.1292G>A - non_coding_transcript_exon_variant 9/10 -