PSEN1 c.589_590inv ;(p.T197V)

Variant ID: 14-73659392-AC-GT

NM_000021.3(PSEN1):c.589_590inv;(p.T197V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization.

The Journal Of Biological Chemistry
Fassler, Matthias M; Li, Xiaolin X; Kaether, Christoph C
Publication Date: 2011-11-04

Variant appearance in text: PS1: T197V
PubMed Link: 21914807
Variant Present in the following documents:
  • Main text
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