FBN1 c.1160A>G ;(p.K387R)

Variant ID: 15-48808547-T-C

NM_000138.4(FBN1):c.1160A>G;(p.K387R)

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:

Impaired Repressor Function in SUMOylation-Defective Thyroid Hormone Receptor Isoforms.

European Thyroid Journal
Weitzel, Joachim M JM
Publication Date: 2016-09

Variant appearance in text: FBN: K387R
PubMed Link: 27843805
Variant Present in the following documents:
  • Main text
View BVdb publication page