Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.L65R

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
Selected Variant
14 papers
NM_172341.4
p.L65R
c.194T>G
Surrounding Variants
15 papers
NM_172341.4
p.F66_W67insG
c.196_200ins3
1 paper
NM_172341.4
p.F64C
c.191T>G
1 paper
NM_172341.4
p.F66C
c.197T>G
1 paper
NM_172341.4
p.W67C
c.201G>C
1 paper
NM_172341.4
p.G63C
c.187G>T
1 paper
NM_172341.4
p.W67C
c.201G>T
1 paper
NM_172341.4
p.V68V
c.204G>T
1 paper
NM_172341.4
p.V70M
c.208G>A
1 paper
NM_172341.4
p.L71V
c.211C>G
6 papers
NM_172341.4
p.T72delFs
c.216delC
1 paper
NM_172341.4
p.W58C
c.174G>C
1 paper
NM_172341.4
p.W58C
c.174G>T
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