ESR1 c.79_81delinsCAA ;(p.N27Q)

Variant ID: 6-152129126-AAC-CAA

NM_000125.3(ESR1):c.79_81delinsCAA;(p.N27Q)

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:

Insights into the Molecular Mechanisms of Alzheimer's and Parkinson's Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology.

International Journal Of Molecular Sciences
Coskuner-Weber, Orkid O; Uversky, Vladimir N VN
Publication Date: 2018-01-24

Variant appearance in text: ESR: Asn27Gln
PubMed Link: 29364151
Variant Present in the following documents:
  • Main text
  • ijms-19-00336.pdf
View BVdb publication page