Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E280G

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
87 papers
NM_000021.4
p.E280G
c.839A>G
Surrounding Variants
575 papers
NM_000021.4
p.E280A
c.839A>C
10 papers
NM_000021.4
p.E280K
c.838G>A
9 papers
NM_000021.4
p.E280Q
c.838G>C
2 papers
NM_000021.4
p.T281P
c.841A>C
1 paper
NM_000021.4
p.T281A
c.841A>G
18 papers
NM_000021.4
p.N279K
c.837T>A
18 papers
NM_000021.4
p.N279K
c.837T>G
1 paper
NM_000021.4
p.E280del1
c.838_839delGAA
1 paper
NM_000021.4
p.N279S
c.836A>G
1 paper
NM_000021.4
p.N279D
c.835A>G
1 paper
NM_000021.4
p.T281T
c.843G>A
1 paper
NM_000021.4
p.T281T
c.843G>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."