Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN

PSENEN

78 papers

RefSeq Summary

Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amy...

Pfam Domains

PEN-2aa 7–99UCSCPresenilin enhancer-2 subunit of gamma secretase

Gene Aliases

HGNC Name

presenilin enhancer, gamma-secretase subunit

HGNC Alias Symbol

PEN2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
26 papers
NM_172341.4
p.G22delFs
c.66delG
18 papers
NM_172341.4
p.S93delFs
c.279delC
15 papers
NM_172341.4
p.G22_F23insFs
c.66_67insG
15 papers
NM_172341.4
p.F66_W67insG
c.196_200ins3
14 papers
NM_172341.4
p.L65R
c.194T>G
11 papers
NM_172341.4
p.Y56*
c.168T>G
10 papers
NM_172341.4
p.Y56Splc
c.167-2A>G
8 papers
NM_172341.4
p.F28_L29insFs
c.84_85insT
8 papers
NM_172341.4
p.R39*
c.115C>T
8 papers
NM_172341.4
p.Y56*
c.168T>A
8 papers
NM_172341.4
p.Y56*
c.168T>G
8 papers
NM_172341.4
p.R84_W85insT
c.250_254ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."