Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L262S

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
3 papers
NM_000021.4
p.L262S
c.785T>C
Surrounding Variants
27 papers
NM_000021.4
p.L262F
c.786G>C
27 papers
NM_000021.4
p.L262F
c.786G>T
8 papers
NM_000021.4
p.L262V
c.784T>G
22 papers
NM_000021.4
p.C263R
c.787T>C
18 papers
NM_000021.4
p.C263F
c.788G>T
2 papers
NM_000021.4
p.V261A
c.782T>C
11 papers
NM_000021.4
p.V261I
c.781G>A
14 papers
NM_000021.4
p.V261L
c.781G>C
43 papers
NM_000021.4
p.V261F
c.781G>T
3 papers
NM_000021.4
p.C263W
c.789T>G
4 papers
NM_000021.4
p.P264S
c.790C>T
8 papers
NM_000021.4
p.A260G
c.779C>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."