PCSK9 c.757_759inv ;(p.L253E)

Variant ID: 1-55518422-CTC-GAG

NM_174936.3(PCSK9):c.757_759inv;(p.L253E)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
Fan, Daping D; Yancey, Patricia G PG; Qiu, Shenfeng S; Ding, Lei L; Weeber, Edwin J EJ; Linton, MacRae F MF; Fazio, Sergio S
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: L253E
PubMed Link: 18197702
Variant Present in the following documents:
  • Main text
View BVdb publication page