Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.S66S

PSEN2

1,200 papers

RefSeq Summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutatio...

Pfam Domains

Presenilinaa 82–338UCSCPresenilin
Presenilinaa 309–438UCSCPresenilin

Gene Aliases

HGNC Name

presenilin 2

HGNC Previous Symbol

AD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000447.3
p.S66S
c.198T>C
Surrounding Variants
1 paper
NM_000447.3
p.V68insFs
c.202dupG
1 paper
NM_000447.3
p.S66_G67insG
c.196_200ins3
5 papers
NM_000447.3
p.C65Y
c.194G>A
1 paper
NM_000447.3
p.C65F
c.194G>T
1 paper
NM_000447.3
p.V68fs
c.202_203fs
1 paper
NM_000447.3
p.P69delFs
c.207delC
12 papers
NM_000447.3
p.P69A
c.205C>G
1 paper
NM_000447.3
p.P69R
c.206C>G
2 papers
NM_000447.3
p.P69L
c.206C>T
1 paper
NM_000447.3
p.V64F
c.190G>T
4 papers
NM_000447.3
p.G70R
c.208G>A
4 papers
NM_000447.3
p.G70R
c.208G>C
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