FBN1 c.2363T>A ;(p.F788Y)

Variant ID: 15-48788353-A-T

NM_000138.4(FBN1):c.2363T>A;(p.F788Y)

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:

POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.

The Journal Of Biological Chemistry
Williamson, Daniel B DB; Sohn, Camron J CJ; Ito, Atsuko A; Haltiwanger, Robert S RS
Publication Date: 2021-09

Variant appearance in text: FBN1: F788Y
PubMed Link: 34411563
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
View BVdb publication page