Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.D257Splc

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.D257Splc
c.770-1G>A
Surrounding Variants
2 papers
NM_000021.4
p.D257Splc
c.770-2A>G
1 paper
NM_000021.4
p.V259L
c.775G>C
1 paper
NM_000021.4
p.V259L
c.775G>T
1 paper
NM_000021.4
p.D257Splc
c.770-9T>G
8 papers
NM_000021.4
p.A260G
c.779C>G
64 papers
NM_000021.4
p.A260V
c.779C>T
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
2 papers
NM_000021.4
p.V261A
c.782T>C
8 papers
NM_000021.4
p.L262V
c.784T>G
3 papers
NM_000021.4
p.L262S
c.785T>C
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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."