PSEN1 c.658_660delinsTGT ;(p.R220C)

Variant ID: 14-73659461-CGA-TGT

NM_000021.3(PSEN1):c.658_660delinsTGT;(p.R220C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: PS1: R220C
PubMed Link: 26818522
Variant Present in the following documents:
  • Main text
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