Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L286V

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
380 papers
NM_000021.4
p.L286V
c.856C>G
Surrounding Variants
32 papers
NM_000021.4
p.L286P
c.857T>C
8 papers
NM_000021.4
p.L286R
c.857T>G
1 paper
NM_000021.4
p.A285G
c.854C>G
38 papers
NM_000021.4
p.A285V
c.854C>T
1 paper
NM_000021.4
p.I287fs
c.859_860fs
1 paper
NM_000021.4
p.I287L
c.859A>C
1 paper
NM_000021.4
p.I287delFs
c.860delT
2 papers
NM_000021.4
p.A285S
c.853G>T
1 paper
NM_000021.4
p.P284Q
c.851C>A
28 papers
NM_000021.4
p.P284L
c.851C>T
4 papers
NM_000021.4
p.P284A
c.850C>G
15 papers
NM_000021.4
p.P284S
c.850C>T
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