PSEN1 c.767A>T ;(p.Y256F)

Variant ID: 14-73659570-A-T

NM_000021.3(PSEN1):c.767A>T;(p.Y256F)

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:

Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences
Kim, Meewhi M; Bezprozvanny, Ilya I
Publication Date: 2021-12-18

Variant appearance in text: PS1: Y256F
PubMed Link: 34948396
Variant Present in the following documents:
  • Main text
  • ijms-22-13600.pdf
View BVdb publication page


Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences
Kim, Meewhi M; Bezprozvanny, Ilya I
Publication Date: 2021-12-18

Variant appearance in text: PS1: Y256F
PubMed Link: 34948396
Variant Present in the following documents:
  • Main text
  • ijms-22-13600.pdf
View BVdb publication page