PSEN1 c.1183_1185delinsTGT ;(p.K395C)

Variant ID: 14-73683887-AAA-TGT

NM_000021.3(PSEN1):c.1183_1185delinsTGT;(p.K395C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24

Variant appearance in text: PS1: K395C
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
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