PSEN1 c.478_480delinsTGT ;(p.K160C)

Variant ID: 14-73640413-AAG-TGT

NM_000021.3(PSEN1):c.478_480delinsTGT;(p.K160C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T
Publication Date: 2019-10-23

Variant appearance in text: PS1: K160C
PubMed Link: 31527118
Variant Present in the following documents:
  • Main text
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