Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I168del1

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.I168del1
c.502_503delATA
Surrounding Variants
1 paper
NM_000021.4
p.I167insFs
c.499_500insTC
7 papers
NM_000021.4
p.I168T
c.503T>C
20 papers
NM_000021.4
p.S169del1
c.505_506delTCA
17 papers
NM_000021.4
p.L166H
c.497T>A
258 papers
NM_000021.4
p.L166P
c.497T>C
29 papers
NM_000021.4
p.S169P
c.505T>C
26 papers
NM_000021.4
p.L166R
c.497T>G
2 papers
NM_000021.4
p.S169A
c.505T>G
1 paper
NM_000021.4
p.I167_I168ins0
c.501_503dupTAT
11 papers
NM_000021.4
p.L166V
c.496C>G
43 papers
NM_000021.4
p.S169L
c.506C>T
11 papers
NM_000021.4
p.I167del1
c.499_500delATT
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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."