PCSK9 c.743_744delinsAA ;(p.R248Q)

Variant ID: 1-55518408-GC-AA

NM_174936.3(PCSK9):c.743_744delinsAA;(p.R248Q)

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:

Human GPR17 missense variants identified in metabolic disease patients have distinct downstream signaling profiles.

The Journal Of Biological Chemistry
Conley, Jason M JM; Sun, Hongmao H; Ayers, Kristin L KL; Zhu, Hu H; Chen, Rong R; Shen, Min M; Hall, Matthew D MD; Ren, Hongxia H
Publication Date: 2021-07

Variant appearance in text: PCSK9: R248Q
PubMed Link: 34144038
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page