Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I238_K239ins0

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
1 paper
NM_000021.4
p.I238_K239ins0
c.713_715dupTCA
Surrounding Variants
14 papers
NM_000021.4
p.F237L
c.711T>A
14 papers
NM_000021.4
p.F237L
c.711T>G
5 papers
NM_000021.4
p.F237C
c.710T>G
29 papers
NM_000021.4
p.F237I
c.709T>A
14 papers
NM_000021.4
p.F237L
c.709T>C
1 paper
NM_000021.4
p.K239ins1
c.715_716insTAA
14 papers
NM_000021.4
p.I238M
c.714C>G
5 papers
NM_000021.4
p.K239E
c.715A>G
6 papers
NM_000021.4
p.V236E
c.707T>A
3 papers
NM_000021.4
p.V236A
c.707T>C
2 papers
NM_000021.4
p.V236M
c.706G>A
1 paper
NM_000021.4
p.K239K
c.717G>A
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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."