Variant ID: 1-55527189-G-T

NM_174936.3(PCSK9):c.1823G>T;(p.Cys608Phe)

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: C608F
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.1823G>T p.Cys608Phe missense_variant 11/12 -
ENST00000490692.1 n.2369G>T - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*370G>T - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1823G>T p.Cys608Phe missense_variant 11/12 -
NR_110451.1 n.1430G>T - non_coding_transcript_exon_variant 9/10 -