Variant ID: 1-55523122-CC-GG

NM_174936.3(PCSK9):c.1115_1116inv;(p.Ser372Trp)

This variant was identified in 1 publication



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

Publications:

Characterisation of de novo mutations in the C-terminal domain of proprotein convertase subtilisin/kexin type 9.

Protein Engineering, Design & Selection : Peds
S Geschwindner, GM Andersson, HG Beisel, S Breuer, C Hallberg, BM Kihlberg, AM Lindqvist, G O'Mahony, AT Plowright, F Raubacher, W Knecht
Publication Date: 2015-05

Variant appearance in text: PCSK9: S372W
PubMed Link: 25744035
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.1115_1116inv p.Ser372Trp missense_variant 7/12 -
ENST00000490692.1 n.1839_1840inv - non_coding_transcript_exon_variant 4/8 -
ENST00000543384.1 c.515_516inv p.Ser172Trp missense_variant 5/10 -
NM_174936.4 c.1115_1116inv p.Ser372Trp missense_variant 7/12 -
NR_110451.1 n.774_775inv - non_coding_transcript_exon_variant 5/10 -