Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.G22A

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
1 paper
NM_172341.4
p.G22A
c.65G>C
Surrounding Variants
1 paper
NM_172341.4
p.G22E
c.65G>A
1 paper
NM_172341.4
p.G21G
c.63G>C
1 paper
NM_172341.4
p.F23V
c.67T>G
1 paper
NM_172341.4
p.F23insFs
c.67_68insG
3 papers
NM_172341.4
p.F23fs
c.67_68fs
1 paper
NM_172341.4
p.F23C
c.68T>G
7 papers
NM_172341.4
p.G21Splc
c.62-1G>C
4 papers
NM_172341.4
p.G21Splc
c.62-1G>T
15 papers
NM_172341.4
p.G22_F23insFs
c.66_67insG
26 papers
NM_172341.4
p.G22delFs
c.66delG
1 paper
NM_172341.4
p.A24D
c.71C>A
1 paper
NM_172341.4
p.F25L
c.73T>C
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