Variant ID: 1-55529213-TG-GC

NM_174936.3(PCSK9):c.2035_2036delinsGC;(p.Cys679Ala)

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: C679A
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.2035_2036delinsGC p.Cys679Ala missense_variant 12/12 -
ENST00000490692.1 n.2581_2582delinsGC - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.2035_2036delinsGC p.Cys679Ala missense_variant 12/12 -
NR_110451.1 n.1642_1643delinsGC - non_coding_transcript_exon_variant 10/10 -