Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L166del1

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
14 papers
NM_000021.4
p.L166del1
c.496_497delCTT
Surrounding Variants
19 papers
NM_000021.4
p.W165C
c.495G>C
19 papers
NM_000021.4
p.W165C
c.495G>T
1 paper
NM_000021.4
p.I167_I168ins0
c.501_503dupTAT
11 papers
NM_000021.4
p.L166V
c.496C>G
11 papers
NM_000021.4
p.I167del1
c.499_500delATT
1 paper
NM_000021.4
p.W165L
c.494G>T
17 papers
NM_000021.4
p.L166H
c.497T>A
258 papers
NM_000021.4
p.L166P
c.497T>C
26 papers
NM_000021.4
p.L166R
c.497T>G
11 papers
NM_000021.4
p.W165G
c.493T>G
1 paper
NM_000021.4
p.W165delFs
c.494delG
1 paper
NM_000021.4
p.I167insFs
c.499_500insTC
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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."