Variant ID: 1-55529214-G-C

NM_174936.3(PCSK9):c.2036G>C;(p.Cys679Ser)

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: C679S
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.2036G>C p.Cys679Ser missense_variant 12/12 -
ENST00000490692.1 n.2582G>C - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2036G>C p.Cys679Ser missense_variant 12/12 -
NR_110451.1 n.1643G>C - non_coding_transcript_exon_variant 10/10 -