PSEN1 c.1153_1154delinsAC ;(p.D385T)

Variant ID: 14-73683857-GA-AC

NM_000021.3(PSEN1):c.1153_1154delinsAC;(p.D385T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Changes in gamma-secretase activity and specificity caused by the introduction of consensus aspartyl protease active motif in Presenilin 1.

Molecular Neurodegeneration
Carter, Donald B DB; Dunn, Edwige E; Pauley, Adele M AM; McKinley, Denise D DD; Fleck, Timothy J TJ; Ellerbrook, Brenda R BR; Stratman, Nancy C NC; Zhou, Xiangdong X; Himes, Carol S CS; Nye, Jeffrey S JS; Tomasselli, Alfredo A; Yan, Riqiang R
Publication Date: 2008-05-12

Variant appearance in text: PS1: D385T
PubMed Link: 18474109
Variant Present in the following documents:
  • Main text
  • 1750-1326-3-6.pdf
View BVdb publication page