Variant ID: 1-55518374-CG-GC


This variant was identified in 1 publication


Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion.

The Febs Journal
J Cameron, ├śL Holla, KE Berge, MA Kulseth, T Ranheim, TP Leren, JK Laerdahl
Publication Date: 2008-08

Variant appearance in text: PCSK9: R237A
PubMed Link: 18631360
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.709_710delinsGC p.Arg237Ala missense_variant 5/12 -
ENST00000452118.2 c.*353_*354delinsGC - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1530_1531delinsGC - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.109_110delinsGC p.Arg37Ala missense_variant 3/10 -
NM_174936.4 c.709_710delinsGC p.Arg237Ala missense_variant 5/12 -
NR_110451.1 n.368_369delinsGC - non_coding_transcript_exon_variant 3/10 -