Variant ID: 1-55517984-A-G

NM_174936.3(PCSK9):c.557A>G;(p.Asp186Gly)

This variant was identified in 1 publication




Publications:


Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

Febs Open Bio
J Guillemot, R Essalmani, J Hamelin, NG Seidah
Publication Date: 2014

Variant appearance in text: PCSK9: D186G
PMID: 25349778
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.557A>G p.Asp186Gly missense_variant 4/12 -
ENST00000452118.2 c.*201A>G - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1378A>G - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-44A>G - 5_prime_UTR_variant 2/10 -
NM_174936.4 c.557A>G p.Asp186Gly missense_variant 4/12 -
NR_110451.1 n.216A>G - non_coding_transcript_exon_variant 2/10 -