Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.I80T

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.I80T
c.239T>C
Surrounding Variants
1 paper
NM_172341.4
p.R82W
c.244C>T
1 paper
NM_172341.4
p.F78C
c.233T>G
1 paper
NM_172341.4
p.I77insFs
c.230_231ins4
4 papers
NM_172341.4
p.I77insFs
c.229_230ins4
4 papers
NM_172341.4
p.I77fs
c.229_230fs
8 papers
NM_172341.4
p.R84_W85insT
c.250_254ins3
1 paper
NM_172341.4
p.R84C
c.250C>T
1 paper
NM_172341.4
p.I77insFs
c.229_230insCA
1 paper
NM_172341.4
p.T76I
c.227C>T
1 paper
NM_172341.4
p.W85R
c.253T>C
3 papers
NM_172341.4
p.T76_I77insFs
c.228_229ins4
1 paper
NM_172341.4
p.W85C
c.255G>C
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