Variant ID: 1-55518351-A-G

NM_174936.3(PCSK9):c.686A>G;(p.His229Arg)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar

Publications:

Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chrétien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: PCSK9: H229R
PMID: 22875854
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.686A>G p.His229Arg missense_variant 5/12 -
ENST00000452118.2 c.*330A>G - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1507A>G - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.86A>G p.His29Arg missense_variant 3/10 -
NM_174936.4 c.686A>G p.His229Arg missense_variant 5/12 -
NR_110451.1 n.345A>G - non_coding_transcript_exon_variant 3/10 -