Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V252M

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.V252M
c.754G>A
Surrounding Variants
2 papers
NM_000021.4
p.A251V
c.752C>T
1 paper
NM_000021.4
p.V252V
c.756G>A
1 paper
NM_000021.4
p.V252V
c.756G>C
1 paper
NM_000021.4
p.I253delFs
c.757_758delAT
1 paper
NM_000021.4
p.I253V
c.757A>G
5 papers
NM_000021.4
p.L250F
c.750G>C
5 papers
NM_000021.4
p.L250F
c.750G>T
51 papers
NM_000021.4
p.L250S
c.749T>C
1 paper
NM_000021.4
p.S254P
c.760T>C
16 papers
NM_000021.4
p.L250V
c.748T>G
11 papers
NM_000021.4
p.I249L
c.745A>C
1 paper
NM_000021.4
p.V255V
c.765A>T
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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."