Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.V44F

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.V44F
c.130G>T
Surrounding Variants
1 paper
NM_172341.4
p.F42C
c.125T>G
8 papers
NM_172341.4
p.R39*
c.115C>T
1 paper
NM_172341.4
p.F38C
c.113T>G
1 paper
NM_172341.4
p.F37C
c.110T>G
1 paper
NM_172341.4
p.W36*
c.108G>A
1 paper
NM_172341.4
p.W36C
c.108G>C
1 paper
NM_172341.4
p.W36C
c.108G>T
1 paper
NM_172341.4
p.W36*
c.107G>A
1 paper
NM_172341.4
p.F35L
c.105C>A
1 paper
NM_172341.4
p.F35L
c.105C>G
1 paper
NM_172341.4
p.F35C
c.104T>G
1 paper
NM_172341.4
p.F35L
c.103T>C
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