APP c.2270A>T ;(p.Y757F)

Variant ID: 21-27254024-T-A

NM_000484.3(APP):c.2270A>T;(p.Y757F)

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:

Molecular Details of a Coupled Binding and Folding Reaction between the Amyloid Precursor Protein and a Folded Domain.

Acs Chemical Biology
Jensen, Thomas M T TMT; Bartling, Christian R O CRO; Karlsson, O Andreas OA; Åberg, Emma E; Haugaard-Kedström, Linda M LM; Strømgaard, Kristian K; Jemth, Per P
Publication Date: 2021-07-16

Variant appearance in text: APP: Y757F
PubMed Link: 34161732
Variant Present in the following documents:
  • Main text
  • cb1c00176.pdf
  • cb1c00176_si_001.pdf
View BVdb publication page