Variant ID: 1-55509688-GT-AG

NM_174936.3(PCSK9):c.380_381delinsAG;(p.Ser127Lys)

This variant was identified in 1 publication




Publications:


Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular Genetics And Metabolism Reports
L Wierød, J Cameron, TB Strøm, TP Leren
Publication Date: 2016-12

Variant appearance in text: PCSK9: S127K
PMID: 27896130
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.380_381delinsAG p.Ser127Lys missense_variant 2/12 -
ENST00000452118.2 c.380_381delinsAG p.Ser127Lys missense_variant 2/6 -
ENST00000543384.1 c.-78+3612_-78+3613delinsAG - intron_variant - 1/9
NM_174936.4 c.380_381delinsAG p.Ser127Lys missense_variant 2/12 -
NR_110451.1 n.182+3612_182+3613delinsAG - intron_variant,non_coding_transcript_variant - 1/9