Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F283L

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
7 papers
NM_000021.4
p.F283L
c.849T>A
Surrounding Variants
7 papers
NM_000021.4
p.F283L
c.849T>G
4 papers
NM_000021.4
p.P284A
c.850C>G
15 papers
NM_000021.4
p.P284S
c.850C>T
1 paper
NM_000021.4
p.P284Q
c.851C>A
28 papers
NM_000021.4
p.P284L
c.851C>T
7 papers
NM_000021.4
p.F283L
c.847T>C
2 papers
NM_000021.4
p.A285S
c.853G>T
1 paper
NM_000021.4
p.L282H
c.845T>A
6 papers
NM_000021.4
p.L282P
c.845T>C
31 papers
NM_000021.4
p.L282R
c.845T>G
2 papers
NM_000021.4
p.L282I
c.844C>A
38 papers
NM_000021.4
p.L282V
c.844C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."