FBN1 c.3577_3579delinsTGG ;(p.L1193W)

Variant ID: 15-48779282-TAG-CCA

NM_000138.4(FBN1):c.3577_3579delinsTGG;(p.L1193W)

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:

The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology.

Physiological Reviews
Guerriero, Christopher J CJ; Brodsky, Jeffrey L JL
Publication Date: 2012-04

Variant appearance in text: FBN1: L1193W
PubMed Link: 22535891
Variant Present in the following documents:
  • Main text
View BVdb publication page