PSEN1 c.781_782delinsCG ;(p.V261R)

Variant ID: 14-73664750-GT-CG

NM_000021.3(PSEN1):c.781_782delinsCG;(p.V261R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Cleavage of amyloid precursor protein by an archaeal presenilin homologue PSH.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Dang, Shangyu S; Wu, Shenjie S; Wang, Jiawei J; Li, Hongbo H; Huang, Min M; He, Wei W; Li, Yue-Ming YM; Wong, Catherine C L CC; Shi, Yigong Y
Publication Date: 2015-03-17

Variant appearance in text: PS1: V261R
PubMed Link: 25733893
Variant Present in the following documents:
  • Main text
View BVdb publication page