Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I287L

PSEN1

3,833 papers

RefSeq Summary

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

Pfam Domains

Presenilinaa 76–457UCSCPresenilin

Gene Aliases

HGNC Name

presenilin 1

HGNC Previous Symbol

AD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000021.4
p.I287L
c.859A>C
Surrounding Variants
1 paper
NM_000021.4
p.I287fs
c.859_860fs
1 paper
NM_000021.4
p.I287delFs
c.860delT
32 papers
NM_000021.4
p.L286P
c.857T>C
8 papers
NM_000021.4
p.L286R
c.857T>G
380 papers
NM_000021.4
p.L286V
c.856C>G
3 papers
NM_000021.4
p.Y288N
c.862T>A
8 papers
NM_000021.4
p.Y288H
c.862T>C
2 papers
NM_000021.4
p.Y288D
c.862T>G
1 paper
NM_000021.4
p.Y288C
c.863A>G
2 papers
NM_000021.4
p.Y288F
c.863A>T
1 paper
NM_000021.4
p.A285G
c.854C>G
38 papers
NM_000021.4
p.A285V
c.854C>T
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