Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.T72delFs

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
6 papers
NM_172341.4
p.T72delFs
c.216delC
Surrounding Variants
1 paper
NM_172341.4
p.L71V
c.211C>G
1 paper
NM_172341.4
p.S73delFs
c.218delC
4 papers
NM_172341.4
p.S73fs
c.217_218fs
3 papers
NM_172341.4
p.S73F
c.218C>T
1 paper
NM_172341.4
p.V70M
c.208G>A
1 paper
NM_172341.4
p.W74C
c.222G>C
1 paper
NM_172341.4
p.W74C
c.222G>T
1 paper
NM_172341.4
p.V68V
c.204G>T
3 papers
NM_172341.4
p.T76_I77insFs
c.228_229ins4
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.W67C
c.201G>C
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