Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.G89A

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
2 papers
NM_172341.4
p.G89A
c.266G>C
Surrounding Variants
4 papers
NM_172341.4
p.D90N
c.268G>A
1 paper
NM_172341.4
p.Y91delFs
c.271delT
1 paper
NM_172341.4
p.Y91fs
c.271_272fs
1 paper
NM_172341.4
p.W85C
c.255G>C
1 paper
NM_172341.4
p.W85C
c.255G>T
18 papers
NM_172341.4
p.S93delFs
c.279delC
1 paper
NM_172341.4
p.W85R
c.253T>C
2 papers
NM_172341.4
p.F94fs
c.280_281fs
8 papers
NM_172341.4
p.R84_W85insT
c.250_254ins3
1 paper
NM_172341.4
p.R84C
c.250C>T
4 papers
NM_172341.4
p.L98delFs
c.292delC
1 paper
NM_172341.4
p.R82W
c.244C>T
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