PCSK7 c.215A>T ;(p.Q72L)

Variant ID: 11-117100346-T-A

NM_004716.2(PCSK7):c.215A>T;(p.Q72L)

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:

Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization.

The Embo Journal
Chen, C D CD; Huff, M E ME; Matteson, J J; Page, L L; Phillips, R R; Kelly, J W JW; Balch, W E WE
Publication Date: 2001-11-15

Variant appearance in text: PC7: Q72L
PubMed Link: 11707399
Variant Present in the following documents:
  • Main text
View BVdb publication page