Variant ID: 1-55518407-CG-GC

NM_174936.3(PCSK9):c.742_743delinsGC;(p.Arg248Ala)

This variant was identified in 1 publication



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

Publications:

Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: R248A
PMID: 20937814
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.742_743delinsGC p.Arg248Ala missense_variant 5/12 -
ENST00000452118.2 c.*386_*387delinsGC - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1563_1564delinsGC - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.142_143delinsGC p.Arg48Ala missense_variant 3/10 -
NM_174936.4 c.742_743delinsGC p.Arg248Ala missense_variant 5/12 -
NR_110451.1 n.401_402delinsGC - non_coding_transcript_exon_variant 3/10 -