Variant ID: 1-55518038-A-C

NM_174936.3(PCSK9):c.611A>C;(p.Asp204Ala)

This variant was identified in 1 publication




Publications:


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: D204A
PubMed Link: 18631360
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.611A>C p.Asp204Ala missense_variant 4/12 -
ENST00000452118.2 c.*255A>C - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1432A>C - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.11A>C p.Asp4Ala missense_variant 2/10 -
NM_174936.4 c.611A>C p.Asp204Ala missense_variant 4/12 -
NR_110451.1 n.270A>C - non_coding_transcript_exon_variant 2/10 -