Variant ID: 1-55517957-G-A

NM_174936.3(PCSK9):c.530G>A;(p.Gly177Asp)

This variant was identified in 1 publication




Publications:


Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

American Journal Of Human Genetics
M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, A Traversa, A Ciolfi, D Stabley, A Bruselles, V Caputo, S Cecchetti, S Prudente, MT Fiorenza, C Boitani, N Philip, D Niyazov, C Leoni, T Nakane, K Keppler-Noreuil, SR Braddock, G Gillessen-Kaesbach, A Palleschi, PM Campeau, BH Lee, C Pouponnot, L Stella, G Bocchinfuso, N Katsanis, K Sol-Church, M Tartaglia
Publication Date: 2015-05-07

Variant appearance in text: PCSK9: Gly177Asp; rs368899514
PubMed Link: 25865493
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.530G>A p.Gly177Asp missense_variant 4/12 -
ENST00000452118.2 c.*174G>A - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1351G>A - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-71G>A - 5_prime_UTR_variant 2/10 -
NM_174936.4 c.530G>A p.Gly177Asp missense_variant 4/12 -
NR_110451.1 n.189G>A - non_coding_transcript_exon_variant 2/10 -